Canonical Allele Identifier: CA1071330411

Gene: AGA

Linked Data

• dbSNP Id: rs1736916271
• gnomAD v3: 4-177439217-CTAAAAATA-C
• gnomAD v4: 4-177439217-CTAAAAATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439225_177439232del , CM000666.2:g.177439225_177439232del	GRCh38
NC_000004.11:g.178360379_178360386del , CM000666.1:g.178360379_178360386del	GRCh37
NC_000004.10:g.178597373_178597380del	NCBI36
NG_011845.2:g.8279_8286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+351_394+358del MANE Select	ENSP00000264595.2:n.394+351_394+358del
ENST00000264595.6:c.394+351_394+358del	ENSP00000264595.2:n.394+351_394+358del
ENST00000502310.5:c.49+351_49+358del	ENSP00000423798.1:n.49+351_49+358del
ENST00000506853.5:n.428+351_428+358del
ENST00000510635.1:c.90+351_90+358del
ENST00000510955.5:n.316-368_316-361del
NM_000027.3:c.394+351_394+358del	NP_000018.2:n.394+351_394+358del
NM_001171988.1:c.394+351_394+358del	NP_001165459.1:n.394+351_394+358del
NR_033655.1:n.522+351_522+358del
XM_006714123.2:c.394+351_394+358del	XP_006714186.1:n.394+351_394+358del
XR_001741155.2:n.488+351_488+358del
NM_000027.4:c.394+351_394+358del MANE Select	NP_000018.2:n.394+351_394+358del
NM_001171988.2:c.394+351_394+358del	NP_001165459.1:n.394+351_394+358del
NR_033655.2:n.456+351_456+358del