Canonical Allele Identifier: CA23896588

Gene: JAK1 RAVER2

Linked Data

• dbSNP Id: rs752728893
• gnomAD v2: 1-65298916-G-GTCTT
• gnomAD v3: 1-64833233-G-GTCTT
• gnomAD v4: 1-64833233-G-GTCTT
• MyVariant Identifiers: chr1:g.65298916_65298917insTCTT (hg19) ; chr1:g.64833233_64833234insTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833235_64833238dup , CM000663.2:g.64833235_64833238dup	GRCh38
NC_000001.10:g.65298918_65298921dup , CM000663.1:g.65298918_65298921dup	GRCh37
NC_000001.9:g.65071506_65071509dup	NCBI36
NG_023402.1:g.138268_138271dup
NG_023402.2:g.239510_239513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465376.7:n.3130_3133dup (JAK1)
ENST00000342505.5:c.*1325_*1328dup (JAK1) MANE Select	ENSP00000343204.4:n.*1325_*1328dup
ENST00000342505.4:c.*1325_*1328dup (JAK1)	ENSP00000343204.4:n.*1325_*1328dup
NM_002227.2:c.*1325_*1328dup (JAK1)	NP_002218.2:n.*1325_*1328dup
XM_005270841.1:c.*1325_*1328dup (JAK1)	XP_005270898.1:n.*1325_*1328dup
XM_006710624.1:c.*1325_*1328dup (JAK1)	XP_006710687.1:n.*1325_*1328dup
XM_011541395.1:c.*1325_*1328dup (JAK1)	XP_011539697.1:n.*1325_*1328dup
NM_001320923.1:c.*1325_*1328dup (JAK1)	NP_001307852.1:n.*1325_*1328dup
NM_001321852.1:c.*1325_*1328dup (JAK1)	NP_001308781.1:n.*1325_*1328dup
NM_001321853.1:c.*1325_*1328dup (JAK1)	NP_001308782.1:n.*1325_*1328dup
NM_001321854.1:c.*1325_*1328dup (JAK1)	NP_001308783.1:n.*1325_*1328dup
NM_001321855.1:c.*1325_*1328dup (JAK1)	NP_001308784.1:n.*1325_*1328dup
NM_001321856.1:c.*1325_*1328dup (JAK1)	NP_001308785.1:n.*1325_*1328dup
NM_001321857.1:c.*1325_*1328dup (JAK1)	NP_001308786.1:n.*1325_*1328dup
NM_002227.3:c.*1325_*1328dup (JAK1)	NP_002218.2:n.*1325_*1328dup
XR_946693.3:n.4669_4672dup (RAVER2)
NM_002227.4:c.*1325_*1328dup (JAK1) MANE Select	NP_002218.2:n.*1325_*1328dup
NM_001321852.2:c.*1325_*1328dup (JAK1)	NP_001308781.1:n.*1325_*1328dup
NM_001321853.2:c.*1325_*1328dup (JAK1)	NP_001308782.1:n.*1325_*1328dup
NM_001321854.2:c.*1325_*1328dup (JAK1)	NP_001308783.1:n.*1325_*1328dup
NM_001321855.2:c.*1325_*1328dup (JAK1)	NP_001308784.1:n.*1325_*1328dup
NM_001321857.2:c.*1325_*1328dup (JAK1)	NP_001308786.1:n.*1325_*1328dup
NM_001320923.2:c.*1325_*1328dup (JAK1)	NP_001307852.1:n.*1325_*1328dup
NM_001321856.2:c.*1325_*1328dup (JAK1)	NP_001308785.1:n.*1325_*1328dup