Canonical Allele Identifier: CA1172054110

Gene: JAK1

Linked Data

• dbSNP Id: rs1654261807
• gnomAD v3: 1-64833483-T-TGAC
• gnomAD v4: 1-64833483-T-TGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833484_64833486dup , CM000663.2:g.64833484_64833486dup	GRCh38
NC_000001.10:g.65299167_65299169dup , CM000663.1:g.65299167_65299169dup	GRCh37
NC_000001.9:g.65071755_65071757dup	NCBI36
NG_023402.1:g.138019_138021dup
NG_023402.2:g.239261_239263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465376.7:n.2881_2883dup
ENST00000671746.2:c.*4449_*4451dup	ENSP00000500065.1:n.*4449_*4451dup
ENST00000671929.2:c.*1076_*1078dup	ENSP00000500485.1:n.*1076_*1078dup
ENST00000671954.2:c.*1076_*1078dup	ENSP00000500841.1:n.*1076_*1078dup
ENST00000672179.2:c.*1076_*1078dup	ENSP00000500296.1:n.*1076_*1078dup
ENST00000672247.2:c.*1076_*1078dup	ENSP00000499884.1:n.*1076_*1078dup
ENST00000672434.2:c.*1076_*1078dup	ENSP00000499900.1:n.*1076_*1078dup
ENST00000672574.2:c.*1076_*1078dup	ENSP00000500714.2:n.*1076_*1078dup
ENST00000672751.2:c.*1076_*1078dup	ENSP00000500745.2:n.*1076_*1078dup
ENST00000673246.2:c.*1076_*1078dup	ENSP00000499942.2:n.*1076_*1078dup
ENST00000673314.2:n.5840_5842dup
ENST00000673502.2:n.6000_6002dup
ENST00000699259.1:c.*1076_*1078dup	ENSP00000514240.1:n.*1076_*1078dup
ENST00000699260.1:c.*1076_*1078dup	ENSP00000514241.1:n.*1076_*1078dup
ENST00000699261.1:c.*1915_*1917dup	ENSP00000514242.1:n.*1915_*1917dup
ENST00000699310.1:c.*1076_*1078dup	ENSP00000514289.1:n.*1076_*1078dup
ENST00000699311.1:c.*3201_*3203dup	ENSP00000514290.1:n.*3201_*3203dup
ENST00000699312.1:c.*1076_*1078dup	ENSP00000514291.1:n.*1076_*1078dup
ENST00000699313.1:c.*3050_*3052dup	ENSP00000514292.1:n.*3050_*3052dup
ENST00000342505.5:c.*1076_*1078dup MANE Select	ENSP00000343204.4:n.*1076_*1078dup
ENST00000671746.1:c.*4449_*4451dup	ENSP00000500065.1:n.*4449_*4451dup
ENST00000671929.1:c.*1076_*1078dup	ENSP00000500485.1:n.*1076_*1078dup
ENST00000671954.1:c.*1076_*1078dup	ENSP00000500841.1:n.*1076_*1078dup
ENST00000672179.1:c.*1076_*1078dup	ENSP00000500296.1:n.*1076_*1078dup
ENST00000672247.1:c.*1076_*1078dup	ENSP00000499884.1:n.*1076_*1078dup
ENST00000672434.1:c.*1076_*1078dup	ENSP00000499900.1:n.*1076_*1078dup
ENST00000672574.1:c.2482_2484dup
ENST00000673046.1:c.*1076_*1078dup	ENSP00000500878.1:n.*1076_*1078dup
ENST00000673220.1:c.*6950_*6952dup	ENSP00000500422.1:n.*6950_*6952dup
ENST00000673246.1:c.4056_4058dup
ENST00000673254.1:c.*1076_*1078dup	ENSP00000500476.1:n.*1076_*1078dup
ENST00000673314.1:n.5637_5639dup
ENST00000342505.4:c.*1076_*1078dup	ENSP00000343204.4:n.*1076_*1078dup
NM_002227.2:c.*1076_*1078dup	NP_002218.2:n.*1076_*1078dup
XM_005270841.1:c.*1076_*1078dup	XP_005270898.1:n.*1076_*1078dup
XM_006710624.1:c.*1076_*1078dup	XP_006710687.1:n.*1076_*1078dup
XM_011541395.1:c.*1076_*1078dup	XP_011539697.1:n.*1076_*1078dup
NM_001320923.1:c.*1076_*1078dup	NP_001307852.1:n.*1076_*1078dup
NM_001321852.1:c.*1076_*1078dup	NP_001308781.1:n.*1076_*1078dup
NM_001321853.1:c.*1076_*1078dup	NP_001308782.1:n.*1076_*1078dup
NM_001321854.1:c.*1076_*1078dup	NP_001308783.1:n.*1076_*1078dup
NM_001321855.1:c.*1076_*1078dup	NP_001308784.1:n.*1076_*1078dup
NM_001321856.1:c.*1076_*1078dup	NP_001308785.1:n.*1076_*1078dup
NM_001321857.1:c.*1076_*1078dup	NP_001308786.1:n.*1076_*1078dup
NM_002227.3:c.*1076_*1078dup	NP_002218.2:n.*1076_*1078dup
NM_002227.4:c.*1076_*1078dup MANE Select	NP_002218.2:n.*1076_*1078dup
NM_001321852.2:c.*1076_*1078dup	NP_001308781.1:n.*1076_*1078dup
NM_001321853.2:c.*1076_*1078dup	NP_001308782.1:n.*1076_*1078dup
NM_001321854.2:c.*1076_*1078dup	NP_001308783.1:n.*1076_*1078dup
NM_001321855.2:c.*1076_*1078dup	NP_001308784.1:n.*1076_*1078dup
NM_001321857.2:c.*1076_*1078dup	NP_001308786.1:n.*1076_*1078dup
NM_001320923.2:c.*1076_*1078dup	NP_001307852.1:n.*1076_*1078dup
NM_001321856.2:c.*1076_*1078dup	NP_001308785.1:n.*1076_*1078dup