Canonical Allele Identifier: CA2672747760

Gene: AGA

Linked Data

• gnomAD v4: 4-177439436-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439437_177439439del , CM000666.2:g.177439437_177439439del	GRCh38
NC_000004.11:g.178360591_178360593del , CM000666.1:g.178360591_178360593del	GRCh37
NC_000004.10:g.178597585_178597587del	NCBI36
NG_011845.2:g.8065_8067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+137_394+139del MANE Select	ENSP00000264595.2:n.394+137_394+139del
ENST00000264595.6:c.394+137_394+139del	ENSP00000264595.2:n.394+137_394+139del
ENST00000502310.5:c.49+137_49+139del	ENSP00000423798.1:n.49+137_49+139del
ENST00000506853.5:n.428+137_428+139del
ENST00000510635.1:c.90+137_90+139del
ENST00000510955.5:n.316-582_316-580del
NM_000027.3:c.394+137_394+139del	NP_000018.2:n.394+137_394+139del
NM_001171988.1:c.394+137_394+139del	NP_001165459.1:n.394+137_394+139del
NR_033655.1:n.522+137_522+139del
XM_006714123.2:c.394+137_394+139del	XP_006714186.1:n.394+137_394+139del
XR_001741155.2:n.488+137_488+139del
NM_000027.4:c.394+137_394+139del MANE Select	NP_000018.2:n.394+137_394+139del
NM_001171988.2:c.394+137_394+139del	NP_001165459.1:n.394+137_394+139del
NR_033655.2:n.456+137_456+139del