Canonical Allele Identifier: CA2672747801

Gene: AGA

Linked Data

• gnomAD v4: 4-177439520-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439521_177439523del , CM000666.2:g.177439521_177439523del	GRCh38
NC_000004.11:g.178360675_178360677del , CM000666.1:g.178360675_178360677del	GRCh37
NC_000004.10:g.178597669_178597671del	NCBI36
NG_011845.2:g.7981_7983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+53_394+55del MANE Select	ENSP00000264595.2:n.394+53_394+55del
ENST00000264595.6:c.394+53_394+55del	ENSP00000264595.2:n.394+53_394+55del
ENST00000502310.5:c.49+53_49+55del	ENSP00000423798.1:n.49+53_49+55del
ENST00000506853.5:n.428+53_428+55del
ENST00000510635.1:c.90+53_90+55del
ENST00000510955.5:n.316-666_316-664del
NM_000027.3:c.394+53_394+55del	NP_000018.2:n.394+53_394+55del
NM_001171988.1:c.394+53_394+55del	NP_001165459.1:n.394+53_394+55del
NR_033655.1:n.522+53_522+55del
XM_006714123.2:c.394+53_394+55del	XP_006714186.1:n.394+53_394+55del
XR_001741155.2:n.488+53_488+55del
NM_000027.4:c.394+53_394+55del MANE Select	NP_000018.2:n.394+53_394+55del
NM_001171988.2:c.394+53_394+55del	NP_001165459.1:n.394+53_394+55del
NR_033655.2:n.456+53_456+55del