Canonical Allele Identifier: CA1515644207

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439217_177439225delinsCTAAAAATA , CM000666.2:g.177439217_177439225delinsCTAAAAATA	GRCh38
NC_000004.11:g.178360371_178360379delinsCTAAAAATA , CM000666.1:g.178360371_178360379delinsCTAAAAATA	GRCh37
NC_000004.10:g.178597365_178597373delinsCTAAAAATA	NCBI36
NG_011845.2:g.8279_8287delinsTATTTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+351_395-360delinsTATTTTTAG MANE Select	ENSP00000264595.2:n.394+351_395-360delinsTATTTTTAG
ENST00000264595.6:c.394+351_395-360delinsTATTTTTAG	ENSP00000264595.2:n.394+351_395-360delinsTATTTTTAG
ENST00000502310.5:c.49+351_50-360delinsTATTTTTAG	ENSP00000423798.1:n.49+351_50-360delinsTATTTTTAG
ENST00000506853.5:n.428+351_429-360delinsTATTTTTAG
ENST00000510635.1:c.90+351_91-360delinsTATTTTTAG
ENST00000510955.5:n.316-368_316-360delinsTATTTTTAG
NM_000027.3:c.394+351_395-360delinsTATTTTTAG	NP_000018.2:n.394+351_395-360delinsTATTTTTAG
NM_001171988.1:c.394+351_395-360delinsTATTTTTAG	NP_001165459.1:n.394+351_395-360delinsTATTTTTAG
NR_033655.1:n.522+351_523-360delinsTATTTTTAG
XM_006714123.2:c.394+351_395-360delinsTATTTTTAG	XP_006714186.1:n.394+351_395-360delinsTATTTTTAG
XR_001741155.2:n.488+351_489-360delinsTATTTTTAG
NM_000027.4:c.394+351_395-360delinsTATTTTTAG MANE Select	NP_000018.2:n.394+351_395-360delinsTATTTTTAG
NM_001171988.2:c.394+351_395-360delinsTATTTTTAG	NP_001165459.1:n.394+351_395-360delinsTATTTTTAG
NR_033655.2:n.456+351_457-360delinsTATTTTTAG