Canonical Allele Identifier: CA110789314

Gene: AGA

Linked Data

• dbSNP Id: rs962064692
• gnomAD v3: 4-177437684-AATAAG-A
• gnomAD v4: 4-177437684-AATAAG-A
• MyVariant Identifiers: chr4:g.178358839_178358843del (hg19) ; chr4:g.177437685_177437689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437689_177437693del , CM000666.2:g.177437689_177437693del	GRCh38
NC_000004.11:g.178358843_178358847del , CM000666.1:g.178358843_178358847del	GRCh37
NC_000004.10:g.178595837_178595841del	NCBI36
NG_011845.2:g.9815_9819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-170_508-166del MANE Select	ENSP00000264595.2:n.508-170_508-166del
ENST00000264595.6:c.508-170_508-166del	ENSP00000264595.2:n.508-170_508-166del
ENST00000502310.5:c.163-170_163-166del	ENSP00000423798.1:n.163-170_163-166del
ENST00000506853.5:n.542-170_542-166del
ENST00000510635.1:c.204-170_204-166del
ENST00000510955.5:n.429-170_429-166del
NM_000027.3:c.508-170_508-166del	NP_000018.2:n.508-170_508-166del
NM_001171988.1:c.508-170_508-166del	NP_001165459.1:n.508-170_508-166del
NR_033655.1:n.636-170_636-166del
XM_006714123.2:c.508-170_508-166del	XP_006714186.1:n.508-170_508-166del
XR_001741155.2:n.602-170_602-166del
NM_000027.4:c.508-170_508-166del MANE Select	NP_000018.2:n.508-170_508-166del
NM_001171988.2:c.508-170_508-166del	NP_001165459.1:n.508-170_508-166del
NR_033655.2:n.570-170_570-166del