Linked Data
dbSNP Id:
rs773274756
ExAC:
9:108366480 G / GCTT
gnomAD v2:
9-108366480-G-GCTT
gnomAD v4:
9-105604199-G-GCTT
MyVariant Identifiers:
chr9:g.108366480_108366481insCTT (hg19)
chr9:g.105604199_105604200insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105604203_105604205dup , CM000671.2:g.105604203_105604205dup | GRCh38 |
| NC_000009.11:g.108366484_108366486dup , CM000671.1:g.108366484_108366486dup | GRCh37 |
| NC_000009.10:g.107406305_107406307dup | NCBI36 |
| NG_008754.1:g.51074_51076dup , LRG_434:g.51074_51076dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357998.10:c.370-12_370-10dup MANE Select | ENSP00000350687.6:n.370-12_370-10dup | |
| ENST00000374705.5:c.381-12_381-10dup | ENSP00000363837.5:n.381-12_381-10dup | |
| ENST00000602661.6:c.488-12_488-10dup | ENSP00000473540.2:n.488-12_488-10dup | |
| ENST00000642177.1:c.370-12_370-10dup | ENSP00000495864.1:n.370-12_370-10dup | |
| ENST00000642537.1:c.*232-12_*232-10dup | ENSP00000495945.1:n.*232-12_*232-10dup | |
| ENST00000642644.1:c.*493-12_*493-10dup | ENSP00000494674.1:n.*493-12_*493-10dup | |
| ENST00000642952.1:c.395-12_395-10dup | ENSP00000493886.1:n.395-12_395-10dup | |
| ENST00000645933.1:c.*368-12_*368-10dup | ENSP00000495852.1:n.*368-12_*368-10dup | |
| ENST00000674563.1:c.370-12_370-10dup | ENSP00000502153.1:n.370-12_370-10dup | |
| ENST00000674633.1:c.370-12_370-10dup | ENSP00000502164.1:n.370-12_370-10dup | |
| ENST00000675232.1:c.*505-12_*505-10dup | ENSP00000502043.1:n.*505-12_*505-10dup | |
| ENST00000675443.1:c.488-12_488-10dup | ENSP00000502643.1:n.488-12_488-10dup | |
| ENST00000675668.1:c.370-12_370-10dup | ENSP00000502113.1:n.370-12_370-10dup | |
| ENST00000675695.1:c.370-12_370-10dup | ENSP00000502460.1:n.370-12_370-10dup | |
| ENST00000675736.1:c.488-12_488-10dup | ENSP00000502809.1:n.488-12_488-10dup | |
| ENST00000676011.1:n.1537-12_1537-10dup | ||
| ENST00000676192.1:c.*290-12_*290-10dup | ENSP00000502158.1:n.*290-12_*290-10dup | |
| ENST00000676310.1:c.370-12_370-10dup | ENSP00000501585.1:n.370-12_370-10dup | |
| ENST00000676371.1:c.*177-12_*177-10dup | ENSP00000501556.1:n.*177-12_*177-10dup | |
| ENST00000223528.6:c.370-12_370-10dup | ENSP00000223528.2:n.370-12_370-10dup | |
| ENST00000357998.9:c.370-12_370-10dup | ENSP00000350687.5:n.370-12_370-10dup | |
| ENST00000374705.4:c.301-12_301-10dup | ENSP00000363837.4:n.301-12_301-10dup | |
| ENST00000448551.6:c.370-12_370-10dup | ENSP00000399140.2:n.370-12_370-10dup | |
| ENST00000602526.1:c.*408-12_*408-10dup | ENSP00000473347.1:n.*408-12_*408-10dup | |
| ENST00000602661.5:c.370-12_370-10dup | ENSP00000473540.1:n.370-12_370-10dup | |
| NM_001079802.1:c.370-12_370-10dup , LRG_434t1:c.370-12_370-10dup | NP_001073270.1:n.370-12_370-10dup | |
| NM_001198963.1:c.370-12_370-10dup | NP_001185892.1:n.370-12_370-10dup | |
| NM_006731.2:c.370-12_370-10dup , LRG_434t2:c.370-12_370-10dup | NP_006722.2:n.370-12_370-10dup | |
| XM_006717014.2:c.370-12_370-10dup | XP_006717077.1:n.370-12_370-10dup | |
| XM_011518368.1:c.370-12_370-10dup | XP_011516670.1:n.370-12_370-10dup | |
| XM_011518369.1:c.370-12_370-10dup | XP_011516671.1:n.370-12_370-10dup | |
| XM_011518370.1:c.370-12_370-10dup | XP_011516672.1:n.370-12_370-10dup | |
| XM_011518371.1:c.370-12_370-10dup | XP_011516673.1:n.370-12_370-10dup | |
| XM_011518372.1:c.370-12_370-10dup | XP_011516674.1:n.370-12_370-10dup | |
| XM_011518373.1:c.370-12_370-10dup | XP_011516675.1:n.370-12_370-10dup | |
| XM_011518374.1:c.370-12_370-10dup | XP_011516676.1:n.370-12_370-10dup | |
| XM_011518375.1:c.370-12_370-10dup | XP_011516677.1:n.370-12_370-10dup | |
| XM_011518376.1:c.370-12_370-10dup | XP_011516678.1:n.370-12_370-10dup | |
| XM_011518377.1:c.370-12_370-10dup | XP_011516679.1:n.370-12_370-10dup | |
| XM_011518378.1:c.370-12_370-10dup | XP_011516680.1:n.370-12_370-10dup | |
| XM_011518379.1:c.301-12_301-10dup | XP_011516681.1:n.301-12_301-10dup | |
| XM_011518380.1:c.370-12_370-10dup | XP_011516682.1:n.370-12_370-10dup | |
| XM_011518381.1:c.184-12_184-10dup | XP_011516683.1:n.184-12_184-10dup | |
| XM_011518382.1:c.184-12_184-10dup | XP_011516684.1:n.184-12_184-10dup | |
| XM_011518383.1:c.184-12_184-10dup | XP_011516685.1:n.184-12_184-10dup | |
| XM_011518384.1:c.184-12_184-10dup | XP_011516686.1:n.184-12_184-10dup | |
| XM_011518385.1:c.184-12_184-10dup | XP_011516687.1:n.184-12_184-10dup | |
| XM_011518386.1:c.370-12_370-10dup | XP_011516688.1:n.370-12_370-10dup | |
| XM_011518387.1:c.370-12_370-10dup | XP_011516689.1:n.370-12_370-10dup | |
| XM_011518388.1:c.370-12_370-10dup | XP_011516690.1:n.370-12_370-10dup | |
| XM_011518389.1:c.370-12_370-10dup | XP_011516691.1:n.370-12_370-10dup | |
| XM_011518390.1:c.-27-12_-27-10dup | XP_011516692.1:n.-27-12_-27-10dup | |
| XM_011518391.1:c.370-12_370-10dup | XP_011516693.1:n.370-12_370-10dup | |
| NM_001351496.1:c.370-12_370-10dup | NP_001338425.1:n.370-12_370-10dup | |
| NM_001351497.1:c.301-12_301-10dup | NP_001338426.1:n.301-12_301-10dup | |
| NM_001351498.1:c.370-12_370-10dup | NP_001338427.1:n.370-12_370-10dup | |
| NM_001351499.1:c.-27-12_-27-10dup | NP_001338428.1:n.-27-12_-27-10dup | |
| NM_001351500.1:c.-27-12_-27-10dup | NP_001338429.1:n.-27-12_-27-10dup | |
| NM_001351501.1:c.-27-12_-27-10dup | NP_001338430.1:n.-27-12_-27-10dup | |
| NM_001351502.1:c.-27-12_-27-10dup | NP_001338431.1:n.-27-12_-27-10dup | |
| NR_147213.1:n.586-12_586-10dup | ||
| NR_147214.1:n.494-12_494-10dup | ||
| XM_011518368.2:c.370-12_370-10dup | XP_011516670.1:n.370-12_370-10dup | |
| XM_011518369.2:c.370-12_370-10dup | XP_011516671.1:n.370-12_370-10dup | |
| XM_011518370.2:c.370-12_370-10dup | XP_011516672.1:n.370-12_370-10dup | |
| XM_011518371.2:c.370-12_370-10dup | XP_011516673.1:n.370-12_370-10dup | |
| XM_011518373.2:c.370-12_370-10dup | XP_011516675.1:n.370-12_370-10dup | |
| XM_011518374.2:c.370-12_370-10dup | XP_011516676.1:n.370-12_370-10dup | |
| XM_011518375.2:c.370-12_370-10dup | XP_011516677.1:n.370-12_370-10dup | |
| XM_011518376.2:c.370-12_370-10dup | XP_011516678.1:n.370-12_370-10dup | |
| XM_011518378.2:c.370-12_370-10dup | XP_011516680.1:n.370-12_370-10dup | |
| XM_011518379.2:c.301-12_301-10dup | XP_011516681.1:n.301-12_301-10dup | |
| XM_011518381.3:c.184-12_184-10dup | XP_011516683.1:n.184-12_184-10dup | |
| XM_011518387.2:c.370-12_370-10dup | XP_011516689.1:n.370-12_370-10dup | |
| XM_011518390.2:c.-27-12_-27-10dup | XP_011516692.1:n.-27-12_-27-10dup | |
| XM_011518391.2:c.370-12_370-10dup | XP_011516693.1:n.370-12_370-10dup | |
| XM_017014462.1:c.370-12_370-10dup | XP_016869951.1:n.370-12_370-10dup | |
| XM_017014463.1:c.370-12_370-10dup | XP_016869952.1:n.370-12_370-10dup | |
| XM_017014464.1:c.370-12_370-10dup | XP_016869953.1:n.370-12_370-10dup | |
| XM_017014465.1:c.370-12_370-10dup | XP_016869954.1:n.370-12_370-10dup | |
| XM_017014467.1:c.370-12_370-10dup | XP_016869956.1:n.370-12_370-10dup | |
| XM_017014468.1:c.370-12_370-10dup | XP_016869957.1:n.370-12_370-10dup | |
| XM_017014469.1:c.370-12_370-10dup | XP_016869958.1:n.370-12_370-10dup | |
| XM_017014470.1:c.370-12_370-10dup | XP_016869959.1:n.370-12_370-10dup | |
| XM_017014472.2:c.184-12_184-10dup | XP_016869961.1:n.184-12_184-10dup | |
| XM_017014473.2:c.184-12_184-10dup | XP_016869962.1:n.184-12_184-10dup | |
| XM_017014475.1:c.370-12_370-10dup | XP_016869964.1:n.370-12_370-10dup | |
| XR_001746242.2:n.734-12_734-10dup | ||
| XR_001746243.2:n.734-12_734-10dup | ||
| XR_001746244.2:n.734-12_734-10dup | ||
| XR_001746245.1:n.584-12_584-10dup | ||
| XR_001746248.1:n.1677-12_1677-10dup | ||
| XR_002956770.1:n.584-12_584-10dup | ||
| NM_001079802.2:c.370-12_370-10dup MANE Select | NP_001073270.1:n.370-12_370-10dup | |
| NM_001198963.2:c.370-12_370-10dup | NP_001185892.1:n.370-12_370-10dup | |
| NM_001351496.2:c.370-12_370-10dup | NP_001338425.1:n.370-12_370-10dup | |
| NM_001351497.2:c.301-12_301-10dup | NP_001338426.1:n.301-12_301-10dup | |
| NM_001351498.2:c.370-12_370-10dup | NP_001338427.1:n.370-12_370-10dup | |
| NM_001351499.2:c.-27-12_-27-10dup | NP_001338428.1:n.-27-12_-27-10dup | |
| NM_001351500.2:c.-27-12_-27-10dup | NP_001338429.1:n.-27-12_-27-10dup | |
| NM_001351501.2:c.-27-12_-27-10dup | NP_001338430.1:n.-27-12_-27-10dup | |
| NM_001351502.2:c.-27-12_-27-10dup | NP_001338431.1:n.-27-12_-27-10dup | |
| NR_147213.2:n.585-12_585-10dup | ||
| NR_147214.2:n.493-12_493-10dup |