Linked Data
dbSNP Id:
rs759025122
ExAC:
5:13753500 T / TAGGAGC
gnomAD v2:
5-13753500-T-TAGGAGC
gnomAD v3:
5-13753391-T-TAGGAGC
gnomAD v4:
5-13753391-T-TAGGAGC
MyVariant Identifiers:
chr5:g.13753500_13753501insAGGAGC (hg19)
chr5:g.13753391_13753392insAGGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753393_13753398dup , CM000667.2:g.13753393_13753398dup | GRCh38 |
| NC_000005.9:g.13753502_13753507dup , CM000667.1:g.13753502_13753507dup | GRCh37 |
| NC_000005.8:g.13806502_13806507dup | NCBI36 |
| NG_013081.1:g.196084_196089dup | |
| NG_013081.2:g.196084_196089dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10708_10713dup MANE Select | ENSP00000265104.4:p.Pro3571_Thr3572insAlaPro | |
| ENST00000681290.1:c.10663_10668dup | ENSP00000505288.1:p.Pro3556_Thr3557insAlaPro | |
| ENST00000265104.4:c.10708_10713dup | ENSP00000265104.4:p.Pro3571_Thr3572insAlaPro | |
| NM_001369.2:c.10708_10713dup | NP_001360.1:p.Pro3571_Thr3572insAlaPro | |
| XM_005248262.2:c.10663_10668dup | XP_005248319.1:p.Pro3556_Thr3557insAlaPro | |
| XM_005248262.3:c.10816_10821dup | XP_005248319.2:p.Pro3607_Thr3608insAlaPro | |
| XM_017009177.1:c.10816_10821dup | XP_016864666.1:p.Pro3607_Thr3608insAlaPro | |
| XM_017009178.1:c.9721_9726dup | XP_016864667.1:p.Pro3242_Thr3243insAlaPro | |
| XM_017009179.2:c.9721_9726dup | XP_016864668.1:p.Pro3242_Thr3243insAlaPro | |
| XM_017009180.1:c.10816_10821dup | XP_016864669.1:p.Pro3607_Thr3608insAlaPro | |
| XM_017009181.1:c.10816_10821dup | XP_016864670.1:p.Pro3607_Thr3608insAlaPro | |
| XM_017009182.1:c.10816_10821dup | XP_016864671.1:p.Pro3607_Thr3608insAlaPro | |
| XM_017009185.1:c.5905_5910dup | XP_016864674.1:p.Pro1970_Thr1971insAlaPro | |
| XM_017009186.1:c.5458_5463dup | XP_016864675.1:p.Pro1821_Thr1822insAlaPro | |
| XM_017009188.1:c.4795_4800dup | XP_016864677.1:p.Pro1600_Thr1601insAlaPro | |
| XM_024454388.1:c.9721_9726dup | XP_024310156.1:p.Pro3242_Thr3243insAlaPro | |
| XM_024454389.1:c.9310_9315dup | XP_024310157.1:p.Pro3105_Thr3106insAlaPro | |
| NM_001369.3:c.10708_10713dup MANE Select | NP_001360.1:p.Pro3571_Thr3572insAlaPro |