Allele Registry

Canonical Allele Identifier: CA994139971

Gene: JAK3 HGNC NCBI

Linked Data - Sequence & Population

gnomAD v3:

19:17825900 C / CAAAAAAAAAAAAAAAA

gnomAD v4:

chr19-17825900-C-CAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17825906_17825921dup , CM000681.2:g.17825906_17825921dup	GRCh38
NC_000019.9:g.17936715_17936730dup , CM000681.1:g.17936715_17936730dup	GRCh37
NC_000019.8:g.17797715_17797730dup	NCBI36
NG_007273.1:g.27076_27091dup , LRG_77:g.27076_27091dup
NG_012092.1:g.596_611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696967.1:n.3379_3394dup
ENST00000696968.1:n.1435_1450dup
ENST00000458235.7:c.827_842dup MANE Select	ENSP00000391676.1:n.827_842dup
ENST00000458235.5:c.827_842dup	ENSP00000391676.1:n.827_842dup
ENST00000527031.5:n.2279-606_2279-591dup
NM_000215.3:c.827_842dup , LRG_77t1:c.827_842dup	NP_000206.2:n.827_842dup
XM_005259896.2:c.827_842dup	XP_005259953.1:n.827_842dup
XM_005259896.3:c.827_842dup	XP_005259953.1:n.827_842dup
NM_000215.4:c.827_842dup MANE Select	NP_000206.2:n.827_842dup

Search 100 bp 5'

Search 100 bp 3'