Canonical Allele Identifier: CA523587058

Gene: JAK1

Linked Data

• dbSNP Id: rs1382896360
• gnomAD v2: 1-65309334-CTTATT-C
• gnomAD v3: 1-64843651-CTTATT-C
• gnomAD v4: 1-64843651-CTTATT-C
• MyVariant Identifiers: chr1:g.65309335_65309339del (hg19) ; chr1:g.64843652_64843656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64843656_64843660del , CM000663.2:g.64843656_64843660del	GRCh38
NC_000001.10:g.65309339_65309343del , CM000663.1:g.65309339_65309343del	GRCh37
NC_000001.9:g.65081927_65081931del	NCBI36
NG_023402.1:g.127849_127853del
NG_023402.2:g.229091_229095del

Transcript Alleles

HGVS	Amino-acid change
ENST00000465376.7:n.743+408_743+412del
ENST00000671746.2:c.*2311+408_*2311+412del	ENSP00000500065.1:n.*2311+408_*2311+412de...
ENST00000671929.2:c.2403+408_2403+412del	ENSP00000500485.1:n.2403+408_2403+412del
ENST00000671954.2:c.2403+408_2403+412del	ENSP00000500841.1:n.2403+408_2403+412del
ENST00000672179.2:c.2403+408_2403+412del	ENSP00000500296.1:n.2403+408_2403+412del
ENST00000672247.2:c.2403+408_2403+412del	ENSP00000499884.1:n.2403+408_2403+412del
ENST00000672434.2:c.2403+408_2403+412del	ENSP00000499900.1:n.2403+408_2403+412del
ENST00000672574.2:c.2403+408_2403+412del	ENSP00000500714.2:n.2403+408_2403+412del
ENST00000672751.2:c.2403+408_2403+412del	ENSP00000500745.2:n.2403+408_2403+412del
ENST00000673246.2:c.2274+408_2274+412del	ENSP00000499942.2:n.2274+408_2274+412del
ENST00000673314.2:n.3702+408_3702+412del
ENST00000673502.2:n.3862+408_3862+412del
ENST00000699259.1:c.2400+408_2400+412del	ENSP00000514240.1:n.2400+408_2400+412del
ENST00000699260.1:c.2400+408_2400+412del	ENSP00000514241.1:n.2400+408_2400+412del
ENST00000699261.1:c.2400+408_2400+412del	ENSP00000514242.1:n.2400+408_2400+412del
ENST00000699262.1:c.2403+408_2403+412del	ENSP00000514243.1:n.2403+408_2403+412del
ENST00000699310.1:c.2397+408_2397+412del	ENSP00000514289.1:n.2397+408_2397+412del
ENST00000699311.1:c.*1063+408_*1063+412del	ENSP00000514290.1:n.*1063+408_*1063+412de...
ENST00000699312.1:c.2403+408_2403+412del	ENSP00000514291.1:n.2403+408_2403+412del
ENST00000699313.1:c.*1063+408_*1063+412del	ENSP00000514292.1:n.*1063+408_*1063+412de...
ENST00000342505.5:c.2403+408_2403+412del MANE Select	ENSP00000343204.4:n.2403+408_2403+412del
ENST00000465376.6:n.704+408_704+412del
ENST00000671746.1:c.*2311+408_*2311+412del	ENSP00000500065.1:n.*2311+408_*2311+412de...
ENST00000671929.1:c.2403+408_2403+412del	ENSP00000500485.1:n.2403+408_2403+412del
ENST00000671954.1:c.2403+408_2403+412del	ENSP00000500841.1:n.2403+408_2403+412del
ENST00000672179.1:c.2403+408_2403+412del	ENSP00000500296.1:n.2403+408_2403+412del
ENST00000672247.1:c.2403+408_2403+412del	ENSP00000499884.1:n.2403+408_2403+412del
ENST00000672434.1:c.2403+408_2403+412del	ENSP00000499900.1:n.2403+408_2403+412del
ENST00000672574.1:c.449+408_449+412del
ENST00000673046.1:c.2403+408_2403+412del	ENSP00000500878.1:n.2403+408_2403+412del
ENST00000673220.1:c.*4963+408_*4963+412del	ENSP00000500422.1:n.*4963+408_*4963+412de...
ENST00000673246.1:c.1918+408_1918+412del
ENST00000673254.1:c.2271+408_2271+412del	ENSP00000500476.1:n.2271+408_2271+412del
ENST00000673314.1:n.3499+408_3499+412del
ENST00000342505.4:c.2403+408_2403+412del	ENSP00000343204.4:n.2403+408_2403+412del
ENST00000465376.5:n.686+408_686+412del
NM_002227.2:c.2403+408_2403+412del	NP_002218.2:n.2403+408_2403+412del
XM_005270841.1:c.2403+408_2403+412del	XP_005270898.1:n.2403+408_2403+412del
XM_006710624.1:c.2403+408_2403+412del	XP_006710687.1:n.2403+408_2403+412del
XM_011541395.1:c.2400+408_2400+412del	XP_011539697.1:n.2400+408_2400+412del
NM_001320923.1:c.2403+408_2403+412del	NP_001307852.1:n.2403+408_2403+412del
NM_001321852.1:c.2403+408_2403+412del	NP_001308781.1:n.2403+408_2403+412del
NM_001321853.1:c.2403+408_2403+412del	NP_001308782.1:n.2403+408_2403+412del
NM_001321854.1:c.2403+408_2403+412del	NP_001308783.1:n.2403+408_2403+412del
NM_001321855.1:c.2403+408_2403+412del	NP_001308784.1:n.2403+408_2403+412del
NM_001321856.1:c.2403+408_2403+412del	NP_001308785.1:n.2403+408_2403+412del
NM_001321857.1:c.2400+408_2400+412del	NP_001308786.1:n.2400+408_2400+412del
NM_002227.3:c.2403+408_2403+412del	NP_002218.2:n.2403+408_2403+412del
NM_002227.4:c.2403+408_2403+412del MANE Select	NP_002218.2:n.2403+408_2403+412del
NM_001321852.2:c.2403+408_2403+412del	NP_001308781.1:n.2403+408_2403+412del
NM_001321853.2:c.2403+408_2403+412del	NP_001308782.1:n.2403+408_2403+412del
NM_001321854.2:c.2403+408_2403+412del	NP_001308783.1:n.2403+408_2403+412del
NM_001321855.2:c.2403+408_2403+412del	NP_001308784.1:n.2403+408_2403+412del
NM_001321857.2:c.2400+408_2400+412del	NP_001308786.1:n.2400+408_2400+412del
NM_001320923.2:c.2403+408_2403+412del	NP_001307852.1:n.2403+408_2403+412del
NM_001321856.2:c.2403+408_2403+412del	NP_001308785.1:n.2403+408_2403+412del