Canonical Allele Identifier: CA2646050655

Gene: JAK1

Linked Data

• gnomAD v4: 1-64833530-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833532_64833533del , CM000663.2:g.64833532_64833533del	GRCh38
NC_000001.10:g.65299215_65299216del , CM000663.1:g.65299215_65299216del	GRCh37
NC_000001.9:g.65071803_65071804del	NCBI36
NG_023402.1:g.137973_137974del
NG_023402.2:g.239215_239216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465376.7:n.2835_2836del
ENST00000671746.2:c.*4403_*4404del	ENSP00000500065.1:n.*4403_*4404del
ENST00000671929.2:c.*1030_*1031del	ENSP00000500485.1:n.*1030_*1031del
ENST00000671954.2:c.*1030_*1031del	ENSP00000500841.1:n.*1030_*1031del
ENST00000672179.2:c.*1030_*1031del	ENSP00000500296.1:n.*1030_*1031del
ENST00000672247.2:c.*1030_*1031del	ENSP00000499884.1:n.*1030_*1031del
ENST00000672434.2:c.*1030_*1031del	ENSP00000499900.1:n.*1030_*1031del
ENST00000672574.2:c.*1030_*1031del	ENSP00000500714.2:n.*1030_*1031del
ENST00000672751.2:c.*1030_*1031del	ENSP00000500745.2:n.*1030_*1031del
ENST00000673246.2:c.*1030_*1031del	ENSP00000499942.2:n.*1030_*1031del
ENST00000673314.2:n.5794_5795del
ENST00000673502.2:n.5954_5955del
ENST00000699259.1:c.*1030_*1031del	ENSP00000514240.1:n.*1030_*1031del
ENST00000699260.1:c.*1030_*1031del	ENSP00000514241.1:n.*1030_*1031del
ENST00000699261.1:c.*1869_*1870del	ENSP00000514242.1:n.*1869_*1870del
ENST00000699310.1:c.*1030_*1031del	ENSP00000514289.1:n.*1030_*1031del
ENST00000699311.1:c.*3155_*3156del	ENSP00000514290.1:n.*3155_*3156del
ENST00000699312.1:c.*1030_*1031del	ENSP00000514291.1:n.*1030_*1031del
ENST00000699313.1:c.*3004_*3005del	ENSP00000514292.1:n.*3004_*3005del
ENST00000342505.5:c.*1030_*1031del MANE Select	ENSP00000343204.4:n.*1030_*1031del
ENST00000671746.1:c.*4403_*4404del	ENSP00000500065.1:n.*4403_*4404del
ENST00000671929.1:c.*1030_*1031del	ENSP00000500485.1:n.*1030_*1031del
ENST00000671954.1:c.*1030_*1031del	ENSP00000500841.1:n.*1030_*1031del
ENST00000672179.1:c.*1030_*1031del	ENSP00000500296.1:n.*1030_*1031del
ENST00000672247.1:c.*1030_*1031del	ENSP00000499884.1:n.*1030_*1031del
ENST00000672434.1:c.*1030_*1031del	ENSP00000499900.1:n.*1030_*1031del
ENST00000672574.1:c.2436_2437del
ENST00000673046.1:c.*1030_*1031del	ENSP00000500878.1:n.*1030_*1031del
ENST00000673220.1:c.*6904_*6905del	ENSP00000500422.1:n.*6904_*6905del
ENST00000673246.1:c.4010_4011del
ENST00000673254.1:c.*1030_*1031del	ENSP00000500476.1:n.*1030_*1031del
ENST00000673314.1:n.5591_5592del
ENST00000342505.4:c.*1030_*1031del	ENSP00000343204.4:n.*1030_*1031del
NM_002227.2:c.*1030_*1031del	NP_002218.2:n.*1030_*1031del
XM_005270841.1:c.*1030_*1031del	XP_005270898.1:n.*1030_*1031del
XM_006710624.1:c.*1030_*1031del	XP_006710687.1:n.*1030_*1031del
XM_011541395.1:c.*1030_*1031del	XP_011539697.1:n.*1030_*1031del
NM_001320923.1:c.*1030_*1031del	NP_001307852.1:n.*1030_*1031del
NM_001321852.1:c.*1030_*1031del	NP_001308781.1:n.*1030_*1031del
NM_001321853.1:c.*1030_*1031del	NP_001308782.1:n.*1030_*1031del
NM_001321854.1:c.*1030_*1031del	NP_001308783.1:n.*1030_*1031del
NM_001321855.1:c.*1030_*1031del	NP_001308784.1:n.*1030_*1031del
NM_001321856.1:c.*1030_*1031del	NP_001308785.1:n.*1030_*1031del
NM_001321857.1:c.*1030_*1031del	NP_001308786.1:n.*1030_*1031del
NM_002227.3:c.*1030_*1031del	NP_002218.2:n.*1030_*1031del
NM_002227.4:c.*1030_*1031del MANE Select	NP_002218.2:n.*1030_*1031del
NM_001321852.2:c.*1030_*1031del	NP_001308781.1:n.*1030_*1031del
NM_001321853.2:c.*1030_*1031del	NP_001308782.1:n.*1030_*1031del
NM_001321854.2:c.*1030_*1031del	NP_001308783.1:n.*1030_*1031del
NM_001321855.2:c.*1030_*1031del	NP_001308784.1:n.*1030_*1031del
NM_001321857.2:c.*1030_*1031del	NP_001308786.1:n.*1030_*1031del
NM_001320923.2:c.*1030_*1031del	NP_001307852.1:n.*1030_*1031del
NM_001321856.2:c.*1030_*1031del	NP_001308785.1:n.*1030_*1031del