Canonical Allele Identifier: CA2672747253

Gene: AGA

Linked Data

• gnomAD v4: 4-177437630-AACTTAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437632_177437639del , CM000666.2:g.177437632_177437639del	GRCh38
NC_000004.11:g.178358786_178358793del , CM000666.1:g.178358786_178358793del	GRCh37
NC_000004.10:g.178595780_178595787del	NCBI36
NG_011845.2:g.9866_9873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-119_508-112del MANE Select	ENSP00000264595.2:n.508-119_508-112del
ENST00000264595.6:c.508-119_508-112del	ENSP00000264595.2:n.508-119_508-112del
ENST00000502310.5:c.163-119_163-112del	ENSP00000423798.1:n.163-119_163-112del
ENST00000506853.5:n.542-119_542-112del
ENST00000510635.1:c.204-119_204-112del
ENST00000510955.5:n.429-119_429-112del
NM_000027.3:c.508-119_508-112del	NP_000018.2:n.508-119_508-112del
NM_001171988.1:c.508-119_508-112del	NP_001165459.1:n.508-119_508-112del
NR_033655.1:n.636-119_636-112del
XM_006714123.2:c.508-119_508-112del	XP_006714186.1:n.508-119_508-112del
XR_001741155.2:n.602-119_602-112del
NM_000027.4:c.508-119_508-112del MANE Select	NP_000018.2:n.508-119_508-112del
NM_001171988.2:c.508-119_508-112del	NP_001165459.1:n.508-119_508-112del
NR_033655.2:n.570-119_570-112del