Canonical Allele Identifier: CA523584664

Gene: JAK1

Linked Data

• dbSNP Id: rs1164278145
• gnomAD v2: 1-65301575-C-CTA
• MyVariant Identifiers: chr1:g.65301575_65301576insTA (hg19) ; chr1:g.64835892_64835893insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64835895_64835896dup , CM000663.2:g.64835895_64835896dup	GRCh38
NC_000001.10:g.65301578_65301579dup , CM000663.1:g.65301578_65301579dup	GRCh37
NC_000001.9:g.65074166_65074167dup	NCBI36
NG_023402.1:g.135611_135612dup
NG_023402.2:g.236853_236854dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000465376.7:n.1598+204_1598+205dup
ENST00000671746.2:c.*3166+204_*3166+205dup	ENSP00000500065.1:n.*3166+204_*3166+205du...
ENST00000671929.2:c.3258+204_3258+205dup	ENSP00000500485.1:n.3258+204_3258+205dup
ENST00000671954.2:c.3258+204_3258+205dup	ENSP00000500841.1:n.3258+204_3258+205dup
ENST00000672179.2:c.3258+204_3258+205dup	ENSP00000500296.1:n.3258+204_3258+205dup
ENST00000672247.2:c.3258+204_3258+205dup	ENSP00000499884.1:n.3258+204_3258+205dup
ENST00000672434.2:c.3258+204_3258+205dup	ENSP00000499900.1:n.3258+204_3258+205dup
ENST00000672574.2:c.3153+204_3153+205dup	ENSP00000500714.2:n.3153+204_3153+205dup
ENST00000672751.2:c.3258+204_3258+205dup	ENSP00000500745.2:n.3258+204_3258+205dup
ENST00000673246.2:c.3129+204_3129+205dup	ENSP00000499942.2:n.3129+204_3129+205dup
ENST00000673314.2:n.4557+204_4557+205dup
ENST00000673502.2:n.4717+204_4717+205dup
ENST00000699259.1:c.3255+204_3255+205dup	ENSP00000514240.1:n.3255+204_3255+205dup
ENST00000699260.1:c.3255+204_3255+205dup	ENSP00000514241.1:n.3255+204_3255+205dup
ENST00000699261.1:c.*632+204_*632+205dup	ENSP00000514242.1:n.*632+204_*632+205dup
ENST00000699262.1:c.3258+204_3258+205dup	ENSP00000514243.1:n.3258+204_3258+205dup
ENST00000699310.1:c.3252+204_3252+205dup	ENSP00000514289.1:n.3252+204_3252+205dup
ENST00000699311.1:c.*1918+204_*1918+205dup	ENSP00000514290.1:n.*1918+204_*1918+205du...
ENST00000699312.1:c.3258+204_3258+205dup	ENSP00000514291.1:n.3258+204_3258+205dup
ENST00000699313.1:c.*1767+204_*1767+205dup	ENSP00000514292.1:n.*1767+204_*1767+205du...
ENST00000342505.5:c.3258+204_3258+205dup MANE Select	ENSP00000343204.4:n.3258+204_3258+205dup
ENST00000465376.6:n.1559+204_1559+205dup
ENST00000671746.1:c.*3166+204_*3166+205dup	ENSP00000500065.1:n.*3166+204_*3166+205du...
ENST00000671929.1:c.3258+204_3258+205dup	ENSP00000500485.1:n.3258+204_3258+205dup
ENST00000671954.1:c.3258+204_3258+205dup	ENSP00000500841.1:n.3258+204_3258+205dup
ENST00000672179.1:c.3258+204_3258+205dup	ENSP00000500296.1:n.3258+204_3258+205dup
ENST00000672247.1:c.3258+204_3258+205dup	ENSP00000499884.1:n.3258+204_3258+205dup
ENST00000672434.1:c.3258+204_3258+205dup	ENSP00000499900.1:n.3258+204_3258+205dup
ENST00000672574.1:c.1199+204_1199+205dup
ENST00000673046.1:c.3252+204_3252+205dup	ENSP00000500878.1:n.3252+204_3252+205dup
ENST00000673220.1:c.*5667+204_*5667+205dup	ENSP00000500422.1:n.*5667+204_*5667+205du...
ENST00000673246.1:c.2773+204_2773+205dup
ENST00000673254.1:c.3126+204_3126+205dup	ENSP00000500476.1:n.3126+204_3126+205dup
ENST00000673314.1:n.4354+204_4354+205dup
ENST00000342505.4:c.3258+204_3258+205dup	ENSP00000343204.4:n.3258+204_3258+205dup
NM_002227.2:c.3258+204_3258+205dup	NP_002218.2:n.3258+204_3258+205dup
XM_005270841.1:c.3258+204_3258+205dup	XP_005270898.1:n.3258+204_3258+205dup
XM_006710624.1:c.3258+204_3258+205dup	XP_006710687.1:n.3258+204_3258+205dup
XM_011541395.1:c.3255+204_3255+205dup	XP_011539697.1:n.3255+204_3255+205dup
NM_001320923.1:c.3258+204_3258+205dup	NP_001307852.1:n.3258+204_3258+205dup
NM_001321852.1:c.3258+204_3258+205dup	NP_001308781.1:n.3258+204_3258+205dup
NM_001321853.1:c.3258+204_3258+205dup	NP_001308782.1:n.3258+204_3258+205dup
NM_001321854.1:c.3258+204_3258+205dup	NP_001308783.1:n.3258+204_3258+205dup
NM_001321855.1:c.3258+204_3258+205dup	NP_001308784.1:n.3258+204_3258+205dup
NM_001321856.1:c.3258+204_3258+205dup	NP_001308785.1:n.3258+204_3258+205dup
NM_001321857.1:c.3255+204_3255+205dup	NP_001308786.1:n.3255+204_3255+205dup
NM_002227.3:c.3258+204_3258+205dup	NP_002218.2:n.3258+204_3258+205dup
NM_002227.4:c.3258+204_3258+205dup MANE Select	NP_002218.2:n.3258+204_3258+205dup
NM_001321852.2:c.3258+204_3258+205dup	NP_001308781.1:n.3258+204_3258+205dup
NM_001321853.2:c.3258+204_3258+205dup	NP_001308782.1:n.3258+204_3258+205dup
NM_001321854.2:c.3258+204_3258+205dup	NP_001308783.1:n.3258+204_3258+205dup
NM_001321855.2:c.3258+204_3258+205dup	NP_001308784.1:n.3258+204_3258+205dup
NM_001321857.2:c.3255+204_3255+205dup	NP_001308786.1:n.3255+204_3255+205dup
NM_001320923.2:c.3258+204_3258+205dup	NP_001307852.1:n.3258+204_3258+205dup
NM_001321856.2:c.3258+204_3258+205dup	NP_001308785.1:n.3258+204_3258+205dup