Canonical Allele Identifier: CA1515649731
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442392_177442395delinsGACC , CM000666.2:g.177442392_177442395delinsGACC GRCh38
NC_000004.11:g.178363546_178363549delinsGACC , CM000666.1:g.178363546_178363549delinsGACC GRCh37
NC_000004.10:g.178600540_178600543delinsGACC NCBI36
NG_011845.2:g.5109_5112delinsGGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-20_-17delinsGGTC MANE Select ENSP00000264595.2:n.-20_-17delinsGGTC
ENST00000264595.6:c.-20_-17delinsGGTC ENSP00000264595.2:n.-20_-17delinsGGTC
ENST00000506853.5:n.15_18delinsGGTC
ENST00000510955.5:n.15_18delinsGGTC
ENST00000511231.1:n.15_18delinsGGTC
NM_000027.3:c.-20_-17delinsGGTC NP_000018.2:n.-20_-17delinsGGTC
NM_001171988.1:c.-20_-17delinsGGTC NP_001165459.1:n.-20_-17delinsGGTC
NR_033655.1:n.109_112delinsGGTC
XM_006714123.2:c.-20_-17delinsGGTC XP_006714186.1:n.-20_-17delinsGGTC
XR_001741155.2:n.75_78delinsGGTC
NM_000027.4:c.-20_-17delinsGGTC MANE Select NP_000018.2:n.-20_-17delinsGGTC
NM_001171988.2:c.-20_-17delinsGGTC NP_001165459.1:n.-20_-17delinsGGTC
NR_033655.2:n.43_46delinsGGTC