Canonical Allele Identifier: CA2259332078
Gene: GSDMA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965472_39965473delinsCT , CM000679.2:g.39965472_39965473delinsCT GRCh38
NC_000017.10:g.38121725_38121726delinsCT , CM000679.1:g.38121725_38121726delinsCT GRCh37
NC_000017.9:g.35375251_35375252delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-211_-5-210delinsCT MANE Select ENSP00000301659.4:n.-5-211_-5-210delinsCT
ENST00000635792.1:c.-5-211_-5-210delinsCT ENSP00000490739.1:n.-5-211_-5-210delinsCT
ENST00000301659.8:c.-5-211_-5-210delinsCT ENSP00000301659.4:n.-5-211_-5-210delinsCT
NM_178171.4:c.-5-211_-5-210delinsCT NP_835465.2:n.-5-211_-5-210delinsCT
XM_017024502.2:c.-5-211_-5-210delinsCT XP_016879991.1:n.-5-211_-5-210delinsCT
XM_017024503.1:c.-5-211_-5-210delinsCT XP_016879992.1:n.-5-211_-5-210delinsCT
XM_017024504.2:c.-5-211_-5-210delinsCT XP_016879993.1:n.-5-211_-5-210delinsCT
NM_178171.5:c.-5-211_-5-210delinsCT MANE Select NP_835465.2:n.-5-211_-5-210delinsCT
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