Linked Data
dbSNP Id:
rs1237883306
gnomAD v2:
9-37436537-G-GAACCATGA
gnomAD v3:
9-37436540-G-GAACCATGA
gnomAD v4:
9-37436540-G-GAACCATGA
MyVariant Identifiers:
chr9:g.37436537_37436538insAACCATGA (hg19)
chr9:g.37436540_37436541insAACCATGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436541_37436548dup , CM000671.2:g.37436541_37436548dup | GRCh38 |
| NC_000009.11:g.37436538_37436545dup , CM000671.1:g.37436538_37436545dup | GRCh37 |
| NC_000009.10:g.37426538_37426545dup | NCBI36 |
| NG_008135.1:g.18832_18839dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.866-120_866-113dup MANE Select | ENSP00000313432.6:n.866-120_866-113dup | |
| ENST00000318158.10:c.866-120_866-113dup | ENSP00000313432.6:n.866-120_866-113dup | |
| ENST00000460882.5:n.893-120_893-113dup | ||
| ENST00000480596.5:n.1567-120_1567-113dup | ||
| ENST00000491488.5:n.571-120_571-113dup | ||
| ENST00000494290.1:c.*52-340_*52-333dup | ENSP00000432021.1:n.*52-340_*52-333dup | |
| ENST00000497693.1:n.4434-120_4434-113dup | ||
| NM_012203.1:c.866-120_866-113dup | NP_036335.1:n.866-120_866-113dup | |
| XM_005251631.1:c.545-120_545-113dup | XP_005251688.1:n.545-120_545-113dup | |
| XM_011518073.1:c.464-120_464-113dup | XP_011516375.1:n.464-120_464-113dup | |
| XM_017015320.2:c.946-870_946-863dup | XP_016870809.1:n.946-870_946-863dup | |
| XM_017015321.2:c.866-870_866-863dup | XP_016870810.1:n.866-870_866-863dup | |
| XM_017015323.2:c.544-870_544-863dup | XP_016870812.1:n.544-870_544-863dup | |
| XM_024447716.1:c.1219-870_1219-863dup | XP_024303484.1:n.1219-870_1219-863dup | |
| XM_024447717.1:c.1139-870_1139-863dup | XP_024303485.1:n.1139-870_1139-863dup | |
| XR_002956828.1:n.1234-870_1234-863dup | ||
| XR_002956829.1:n.1154-870_1154-863dup | ||
| XR_002956830.1:n.2286-120_2286-113dup | ||
| XR_002956831.1:n.1961-120_1961-113dup | ||
| XR_002956832.1:n.1285-120_1285-113dup | ||
| NM_012203.2:c.866-120_866-113dup MANE Select | NP_036335.1:n.866-120_866-113dup |