Canonical Allele Identifier: CA1515645142

Gene: AGA

Linked Data

• dbSNP Id: rs1736937499
• gnomAD v4: 4-177439791-C-CACCATCTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439794_177439802dup , CM000666.2:g.177439794_177439802dup	GRCh38
NC_000004.11:g.178360948_178360956dup , CM000666.1:g.178360948_178360956dup	GRCh37
NC_000004.10:g.178597942_178597950dup	NCBI36
NG_011845.2:g.7704_7712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-112_282-104dup MANE Select	ENSP00000264595.2:n.282-112_282-104dup
ENST00000264595.6:c.282-112_282-104dup	ENSP00000264595.2:n.282-112_282-104dup
ENST00000506853.5:n.316-112_316-104dup
ENST00000510955.5:n.315+473_315+481dup
NM_000027.3:c.282-112_282-104dup	NP_000018.2:n.282-112_282-104dup
NM_001171988.1:c.282-112_282-104dup	NP_001165459.1:n.282-112_282-104dup
NR_033655.1:n.410-112_410-104dup
XM_006714123.2:c.282-112_282-104dup	XP_006714186.1:n.282-112_282-104dup
XR_001741155.2:n.376-112_376-104dup
NM_000027.4:c.282-112_282-104dup MANE Select	NP_000018.2:n.282-112_282-104dup
NM_001171988.2:c.282-112_282-104dup	NP_001165459.1:n.282-112_282-104dup
NR_033655.2:n.344-112_344-104dup