Canonical Allele Identifier: CA2672747650

Gene: AGA

Linked Data

• gnomAD v4: 4-177438889-A-AAGTATTGTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438889_177438890insAGTATTGTTTTTTTTTTT , CM000666.2:g.177438889_177438890insAGTATTGTTTTTTTTTTT	GRCh38
NC_000004.11:g.178360043_178360044insAGTATTGTTTTTTTTTTT , CM000666.1:g.178360043_178360044insAGTATTGTTTTTTTTTTT	GRCh37
NC_000004.10:g.178597037_178597038insAGTATTGTTTTTTTTTTT	NCBI36
NG_011845.2:g.8614_8615insAAAAAAAAAAACAATACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-33_395-32insAAAAAAAAAAACAATACT MANE Select	ENSP00000264595.2:n.395-33_395-32insAAAAAAAAAAACAATACT
ENST00000264595.6:c.395-33_395-32insAAAAAAAAAAACAATACT	ENSP00000264595.2:n.395-33_395-32insAAAAAAAAAAACAATACT
ENST00000502310.5:c.50-33_50-32insAAAAAAAAAAACAATACT	ENSP00000423798.1:n.50-33_50-32insAAAAAAAAAAACAATACT
ENST00000506853.5:n.429-33_429-32insAAAAAAAAAAACAATACT
ENST00000510635.1:c.91-33_91-32insAAAAAAAAAAACAATACT
ENST00000510955.5:n.316-33_316-32insAAAAAAAAAAACAATACT
NM_000027.3:c.395-33_395-32insAAAAAAAAAAACAATACT	NP_000018.2:n.395-33_395-32insAAAAAAAAAAACAATACT
NM_001171988.1:c.395-33_395-32insAAAAAAAAAAACAATACT	NP_001165459.1:n.395-33_395-32insAAAAAAAAAAACAATACT
NR_033655.1:n.523-33_523-32insAAAAAAAAAAACAATACT
XM_006714123.2:c.395-33_395-32insAAAAAAAAAAACAATACT	XP_006714186.1:n.395-33_395-32insAAAAAAAAAAACAATACT
XR_001741155.2:n.489-33_489-32insAAAAAAAAAAACAATACT
NM_000027.4:c.395-33_395-32insAAAAAAAAAAACAATACT MANE Select	NP_000018.2:n.395-33_395-32insAAAAAAAAAAACAATACT
NM_001171988.2:c.395-33_395-32insAAAAAAAAAAACAATACT	NP_001165459.1:n.395-33_395-32insAAAAAAAAAAACAATACT
NR_033655.2:n.457-33_457-32insAAAAAAAAAAACAATACT