Canonical Allele Identifier: CA2672747761

Gene: AGA

Linked Data

• gnomAD v4: 4-177439440-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439441_177439442del , CM000666.2:g.177439441_177439442del	GRCh38
NC_000004.11:g.178360595_178360596del , CM000666.1:g.178360595_178360596del	GRCh37
NC_000004.10:g.178597589_178597590del	NCBI36
NG_011845.2:g.8062_8063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+134_394+135del MANE Select	ENSP00000264595.2:n.394+134_394+135del
ENST00000264595.6:c.394+134_394+135del	ENSP00000264595.2:n.394+134_394+135del
ENST00000502310.5:c.49+134_49+135del	ENSP00000423798.1:n.49+134_49+135del
ENST00000506853.5:n.428+134_428+135del
ENST00000510635.1:c.90+134_90+135del
ENST00000510955.5:n.316-585_316-584del
NM_000027.3:c.394+134_394+135del	NP_000018.2:n.394+134_394+135del
NM_001171988.1:c.394+134_394+135del	NP_001165459.1:n.394+134_394+135del
NR_033655.1:n.522+134_522+135del
XM_006714123.2:c.394+134_394+135del	XP_006714186.1:n.394+134_394+135del
XR_001741155.2:n.488+134_488+135del
NM_000027.4:c.394+134_394+135del MANE Select	NP_000018.2:n.394+134_394+135del
NM_001171988.2:c.394+134_394+135del	NP_001165459.1:n.394+134_394+135del
NR_033655.2:n.456+134_456+135del