Canonical Allele Identifier: CA645540430

Gene: AGA

Linked Data

• COSMIC: COSM301563

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438755_177438756delinsGA , CM000666.2:g.177438755_177438756delinsGA	GRCh38
NC_000004.11:g.178359909_178359910delinsGA , CM000666.1:g.178359909_178359910delinsGA	GRCh37
NC_000004.10:g.178596903_178596904delinsGA	NCBI36
NG_011845.2:g.8748_8749delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.496_497delinsTC MANE Select	ENSP00000264595.2:p.Asn166Ser
ENST00000264595.6:c.496_497delinsTC	ENSP00000264595.2:p.Asn166Ser
ENST00000502310.5:c.151_152delinsTC	ENSP00000423798.1:p.Asn51Ser
ENST00000506853.5:n.530_531delinsTC
ENST00000510635.1:c.192_193delinsTC
ENST00000510955.5:n.417_418delinsTC
NM_000027.3:c.496_497delinsTC	NP_000018.2:p.Asn166Ser
NM_001171988.1:c.496_497delinsTC	NP_001165459.1:p.Asn166Ser
NR_033655.1:n.624_625delinsTC
XM_006714123.2:c.496_497delinsTC	XP_006714186.1:p.Asn166Ser
XR_001741155.2:n.590_591delinsTC
NM_000027.4:c.496_497delinsTC MANE Select	NP_000018.2:p.Asn166Ser
NM_001171988.2:c.496_497delinsTC	NP_001165459.1:p.Asn166Ser
NR_033655.2:n.558_559delinsTC