Canonical Allele Identifier: CA2326051041

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829705_17829728delinsAGCTATAATTGCACCCCAGCCTGG , CM000681.2:g.17829705_17829728delinsAGCTATAATTGCACCCCAGCCTGG	GRCh38
NC_000019.9:g.17940514_17940537delinsAGCTATAATTGCACCCCAGCCTGG , CM000681.1:g.17940514_17940537delinsAGCTATAATTGCACCCCAGCCTGG	GRCh37
NC_000019.8:g.17801514_17801537delinsAGCTATAATTGCACCCCAGCCTGG	NCBI36
NG_007273.1:g.23264_23287delinsCCAGGCTGGGGTGCAATTATAGCT , LRG_77:g.23264_23287delinsCCAGGCTGGGGTGCAATTATAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+380_*1764+403delinsCCAGGCTGGGGTGCAATTATAGCT	ENSP00000513006.1:n.*1764+380_*1764+403delinsCCAGGCTGGGGTGCAA...
ENST00000696967.1:n.2384+380_2384+403delinsCCAGGCTGGGGTGCAATTATAGCT
ENST00000696968.1:n.440+380_440+403delinsCCAGGCTGGGGTGCAATTATAGCT
ENST00000696969.1:n.2164+380_2164+403delinsCCAGGCTGGGGTGCAATTATAGCT
ENST00000458235.7:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT MANE Select	ENSP00000391676.1:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATT...
ENST00000458235.5:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT	ENSP00000391676.1:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATT...
ENST00000527031.5:n.2279-4418_2279-4395delinsCCAGGCTGGGGTGCAATTATAGCT
ENST00000527670.5:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT	ENSP00000432511.1:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATT...
NM_000215.3:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT , LRG_77t1:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT	NP_000206.2:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT...
XM_005259896.2:c.3336+380_3336+403delinsCCAGGCTGGGGTGCAATTATAGCT	XP_005259953.1:n.3336+380_3336+403delinsCCAGGCTGGGGTGCAATTATA...
XM_006722745.2:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT	XP_006722808.1:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATA...
XM_005259896.3:c.3336+380_3336+403delinsCCAGGCTGGGGTGCAATTATAGCT	XP_005259953.1:n.3336+380_3336+403delinsCCAGGCTGGGGTGCAATTATA...
NM_000215.4:c.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT MANE Select	NP_000206.2:n.3207+380_3207+403delinsCCAGGCTGGGGTGCAATTATAGCT...