Canonical Allele Identifier: CA1002585825

Gene: JAK1

Linked Data

• dbSNP Id: rs1647238825
• gnomAD v3: 1-65049878-G-GATATC
• gnomAD v4: 1-65049878-G-GATATC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65049880_65049881insATCAT , CM000663.2:g.65049880_65049881insATCAT	GRCh38
NC_000001.10:g.65515563_65515564insATCAT , CM000663.1:g.65515563_65515564insATCAT	GRCh37
NC_000001.9:g.65288151_65288152insATCAT	NCBI36
NG_023402.2:g.22868_22869insGATAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000671954.2:c.-180-5297_-180-5296insGATAT	ENSP00000500841.1:n.-180-5297_-180-5296in...
ENST00000672434.2:c.-162+16749_-162+16750insGATAT	ENSP00000499900.1:n.-162+16749_-162+16750...
ENST00000672751.2:c.-78+17725_-78+17726insGATAT	ENSP00000500745.2:n.-78+17725_-78+17726in...
ENST00000673502.2:n.374+16242_374+16243insGATAT
ENST00000699263.1:c.-387+17725_-387+17726insGATAT	ENSP00000514244.1:n.-387+17725_-387+17726...
ENST00000699312.1:c.-78+16749_-78+16750insGATAT	ENSP00000514291.1:n.-78+16749_-78+16750in...
ENST00000699314.1:c.-856+17725_-856+17726insGATAT	ENSP00000514294.1:n.-856+17725_-856+17726...
ENST00000671954.1:c.-180-5297_-180-5296insGATAT	ENSP00000500841.1:n.-180-5297_-180-5296in...
ENST00000672099.1:c.-384+17725_-384+17726insGATAT	ENSP00000500328.1:n.-384+17725_-384+17726...
ENST00000672434.1:c.-162+16749_-162+16750insGATAT	ENSP00000499900.1:n.-162+16749_-162+16750...
ENST00000672751.1:c.-78+17725_-78+17726insGATAT	ENSP00000500745.1:n.-78+17725_-78+17726in...
ENST00000673502.1:c.-78+16242_-78+16243insGATAT	ENSP00000500011.1:n.-78+16242_-78+16243in...
XM_011542510.1:c.231-955_231-954insGATAT	XP_011540812.1:n.231-955_231-954insGATAT
NM_001321852.1:c.-78+17725_-78+17726insGATAT	NP_001308781.1:n.-78+17725_-78+17726insGA...
NM_001321853.1:c.-162+16749_-162+16750insGATAT	NP_001308782.1:n.-162+16749_-162+16750ins...
NM_001321854.1:c.-78+16749_-78+16750insGATAT	NP_001308783.1:n.-78+16749_-78+16750insGA...
NM_001321852.2:c.-78+17725_-78+17726insGATAT	NP_001308781.1:n.-78+17725_-78+17726insGA...
NM_001321853.2:c.-162+16749_-162+16750insGATAT	NP_001308782.1:n.-162+16749_-162+16750ins...
NM_001321854.2:c.-78+16749_-78+16750insGATAT	NP_001308783.1:n.-78+16749_-78+16750insGA...