Canonical Allele Identifier: CA2672747280

Gene: AGA

Linked Data

• gnomAD v4: 4-177437653-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437654_177437655insTTT , CM000666.2:g.177437654_177437655insTTT	GRCh38
NC_000004.11:g.178358808_178358809insTTT , CM000666.1:g.178358808_178358809insTTT	GRCh37
NC_000004.10:g.178595802_178595803insTTT	NCBI36
NG_011845.2:g.9850_9851insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-135_508-134insAAA MANE Select	ENSP00000264595.2:n.508-135_508-134insAAA
ENST00000264595.6:c.508-135_508-134insAAA	ENSP00000264595.2:n.508-135_508-134insAAA
ENST00000502310.5:c.163-135_163-134insAAA	ENSP00000423798.1:n.163-135_163-134insAAA
ENST00000506853.5:n.542-135_542-134insAAA
ENST00000510635.1:c.204-135_204-134insAAA
ENST00000510955.5:n.429-135_429-134insAAA
NM_000027.3:c.508-135_508-134insAAA	NP_000018.2:n.508-135_508-134insAAA
NM_001171988.1:c.508-135_508-134insAAA	NP_001165459.1:n.508-135_508-134insAAA
NR_033655.1:n.636-135_636-134insAAA
XM_006714123.2:c.508-135_508-134insAAA	XP_006714186.1:n.508-135_508-134insAAA
XR_001741155.2:n.602-135_602-134insAAA
NM_000027.4:c.508-135_508-134insAAA MANE Select	NP_000018.2:n.508-135_508-134insAAA
NM_001171988.2:c.508-135_508-134insAAA	NP_001165459.1:n.508-135_508-134insAAA
NR_033655.2:n.570-135_570-134insAAA