Canonical Allele Identifier: CA1515642231

Gene: AGA

Linked Data

• dbSNP Id: rs1736870629

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437688_177437690del , CM000666.2:g.177437688_177437690del	GRCh38
NC_000004.11:g.178358842_178358844del , CM000666.1:g.178358842_178358844del	GRCh37
NC_000004.10:g.178595836_178595838del	NCBI36
NG_011845.2:g.9815_9817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-170_508-168del MANE Select	ENSP00000264595.2:n.508-170_508-168del
ENST00000264595.6:c.508-170_508-168del	ENSP00000264595.2:n.508-170_508-168del
ENST00000502310.5:c.163-170_163-168del	ENSP00000423798.1:n.163-170_163-168del
ENST00000506853.5:n.542-170_542-168del
ENST00000510635.1:c.204-170_204-168del
ENST00000510955.5:n.429-170_429-168del
NM_000027.3:c.508-170_508-168del	NP_000018.2:n.508-170_508-168del
NM_001171988.1:c.508-170_508-168del	NP_001165459.1:n.508-170_508-168del
NR_033655.1:n.636-170_636-168del
XM_006714123.2:c.508-170_508-168del	XP_006714186.1:n.508-170_508-168del
XR_001741155.2:n.602-170_602-168del
NM_000027.4:c.508-170_508-168del MANE Select	NP_000018.2:n.508-170_508-168del
NM_001171988.2:c.508-170_508-168del	NP_001165459.1:n.508-170_508-168del
NR_033655.2:n.570-170_570-168del