Canonical Allele Identifier: CA23896849

Gene: JAK1

Linked Data

• dbSNP Id: rs547501051
• gnomAD v2: 1-65299293-A-AAAAC
• gnomAD v3: 1-64833610-A-AAAAC
• gnomAD v4: 1-64833610-A-AAAAC
• MyVariant Identifiers: chr1:g.65299293_65299294insAAAC (hg19) ; chr1:g.64833610_64833611insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833612_64833615dup , CM000663.2:g.64833612_64833615dup	GRCh38
NC_000001.10:g.65299295_65299298dup , CM000663.1:g.65299295_65299298dup	GRCh37
NC_000001.9:g.65071883_65071886dup	NCBI36
NG_023402.1:g.137891_137894dup
NG_023402.2:g.239133_239136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465376.7:n.2753_2756dup
ENST00000671746.2:c.*4321_*4324dup	ENSP00000500065.1:n.*4321_*4324dup
ENST00000671929.2:c.*948_*951dup	ENSP00000500485.1:n.*948_*951dup
ENST00000671954.2:c.*948_*951dup	ENSP00000500841.1:n.*948_*951dup
ENST00000672179.2:c.*948_*951dup	ENSP00000500296.1:n.*948_*951dup
ENST00000672247.2:c.*948_*951dup	ENSP00000499884.1:n.*948_*951dup
ENST00000672434.2:c.*948_*951dup	ENSP00000499900.1:n.*948_*951dup
ENST00000672574.2:c.*948_*951dup	ENSP00000500714.2:n.*948_*951dup
ENST00000672751.2:c.*948_*951dup	ENSP00000500745.2:n.*948_*951dup
ENST00000673246.2:c.*948_*951dup	ENSP00000499942.2:n.*948_*951dup
ENST00000673314.2:n.5712_5715dup
ENST00000673502.2:n.5872_5875dup
ENST00000699259.1:c.*948_*951dup	ENSP00000514240.1:n.*948_*951dup
ENST00000699260.1:c.*948_*951dup	ENSP00000514241.1:n.*948_*951dup
ENST00000699261.1:c.*1787_*1790dup	ENSP00000514242.1:n.*1787_*1790dup
ENST00000699310.1:c.*948_*951dup	ENSP00000514289.1:n.*948_*951dup
ENST00000699311.1:c.*3073_*3076dup	ENSP00000514290.1:n.*3073_*3076dup
ENST00000699312.1:c.*948_*951dup	ENSP00000514291.1:n.*948_*951dup
ENST00000699313.1:c.*2922_*2925dup	ENSP00000514292.1:n.*2922_*2925dup
ENST00000342505.5:c.*948_*951dup MANE Select	ENSP00000343204.4:n.*948_*951dup
ENST00000671746.1:c.*4321_*4324dup	ENSP00000500065.1:n.*4321_*4324dup
ENST00000671929.1:c.*948_*951dup	ENSP00000500485.1:n.*948_*951dup
ENST00000671954.1:c.*948_*951dup	ENSP00000500841.1:n.*948_*951dup
ENST00000672179.1:c.*948_*951dup	ENSP00000500296.1:n.*948_*951dup
ENST00000672247.1:c.*948_*951dup	ENSP00000499884.1:n.*948_*951dup
ENST00000672434.1:c.*948_*951dup	ENSP00000499900.1:n.*948_*951dup
ENST00000672574.1:c.2354_2357dup
ENST00000673046.1:c.*948_*951dup	ENSP00000500878.1:n.*948_*951dup
ENST00000673220.1:c.*6822_*6825dup	ENSP00000500422.1:n.*6822_*6825dup
ENST00000673246.1:c.3928_3931dup
ENST00000673254.1:c.*948_*951dup	ENSP00000500476.1:n.*948_*951dup
ENST00000673314.1:n.5509_5512dup
ENST00000342505.4:c.*948_*951dup	ENSP00000343204.4:n.*948_*951dup
NM_002227.2:c.*948_*951dup	NP_002218.2:n.*948_*951dup
XM_005270841.1:c.*948_*951dup	XP_005270898.1:n.*948_*951dup
XM_006710624.1:c.*948_*951dup	XP_006710687.1:n.*948_*951dup
XM_011541395.1:c.*948_*951dup	XP_011539697.1:n.*948_*951dup
NM_001320923.1:c.*948_*951dup	NP_001307852.1:n.*948_*951dup
NM_001321852.1:c.*948_*951dup	NP_001308781.1:n.*948_*951dup
NM_001321853.1:c.*948_*951dup	NP_001308782.1:n.*948_*951dup
NM_001321854.1:c.*948_*951dup	NP_001308783.1:n.*948_*951dup
NM_001321855.1:c.*948_*951dup	NP_001308784.1:n.*948_*951dup
NM_001321856.1:c.*948_*951dup	NP_001308785.1:n.*948_*951dup
NM_001321857.1:c.*948_*951dup	NP_001308786.1:n.*948_*951dup
NM_002227.3:c.*948_*951dup	NP_002218.2:n.*948_*951dup
NM_002227.4:c.*948_*951dup MANE Select	NP_002218.2:n.*948_*951dup
NM_001321852.2:c.*948_*951dup	NP_001308781.1:n.*948_*951dup
NM_001321853.2:c.*948_*951dup	NP_001308782.1:n.*948_*951dup
NM_001321854.2:c.*948_*951dup	NP_001308783.1:n.*948_*951dup
NM_001321855.2:c.*948_*951dup	NP_001308784.1:n.*948_*951dup
NM_001321857.2:c.*948_*951dup	NP_001308786.1:n.*948_*951dup
NM_001320923.2:c.*948_*951dup	NP_001307852.1:n.*948_*951dup
NM_001321856.2:c.*948_*951dup	NP_001308785.1:n.*948_*951dup