Canonical Allele Identifier: CA1515644423
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439413_177439414delinsAG , CM000666.2:g.177439413_177439414delinsAG GRCh38
NC_000004.11:g.178360567_178360568delinsAG , CM000666.1:g.178360567_178360568delinsAG GRCh37
NC_000004.10:g.178597561_178597562delinsAG NCBI36
NG_011845.2:g.8090_8091delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+162_394+163delinsCT MANE Select ENSP00000264595.2:n.394+162_394+163delinsCT
ENST00000264595.6:c.394+162_394+163delinsCT ENSP00000264595.2:n.394+162_394+163delinsCT
ENST00000502310.5:c.49+162_49+163delinsCT ENSP00000423798.1:n.49+162_49+163delinsCT
ENST00000506853.5:n.428+162_428+163delinsCT
ENST00000510635.1:c.90+162_90+163delinsCT
ENST00000510955.5:n.316-557_316-556delinsCT
NM_000027.3:c.394+162_394+163delinsCT NP_000018.2:n.394+162_394+163delinsCT
NM_001171988.1:c.394+162_394+163delinsCT NP_001165459.1:n.394+162_394+163delinsCT
NR_033655.1:n.522+162_522+163delinsCT
XM_006714123.2:c.394+162_394+163delinsCT XP_006714186.1:n.394+162_394+163delinsCT
XR_001741155.2:n.488+162_488+163delinsCT
NM_000027.4:c.394+162_394+163delinsCT MANE Select NP_000018.2:n.394+162_394+163delinsCT
NM_001171988.2:c.394+162_394+163delinsCT NP_001165459.1:n.394+162_394+163delinsCT
NR_033655.2:n.456+162_456+163delinsCT