Canonical Allele Identifier: CA2259332210

Gene: GSDMA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965766_39965769delinsCTCA , CM000679.2:g.39965766_39965769delinsCTCA	GRCh38
NC_000017.10:g.38122019_38122022delinsCTCA , CM000679.1:g.38122019_38122022delinsCTCA	GRCh37
NC_000017.9:g.35375545_35375548delinsCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.79_82delinsCTCA MANE Select	ENSP00000301659.4:p.Leu27=
ENST00000635792.1:c.79_82delinsCTCA	ENSP00000490739.1:p.Leu27=
ENST00000301659.8:c.79_82delinsCTCA	ENSP00000301659.4:p.Leu27=
ENST00000577447.1:c.79_82delinsCTCA	ENSP00000461985.1:p.Leu27=
NM_178171.4:c.79_82delinsCTCA	NP_835465.2:p.Leu27=
XM_006721832.2:c.79_82delinsCTCA	XP_006721895.1:p.Leu27=
XM_006721832.3:c.79_82delinsCTCA	XP_006721895.1:p.Leu27=
XM_017024502.2:c.79_82delinsCTCA	XP_016879991.1:p.Leu27=
XM_017024503.1:c.79_82delinsCTCA	XP_016879992.1:p.Leu27=
XM_017024504.2:c.79_82delinsCTCA	XP_016879993.1:p.Leu27=
NM_178171.5:c.79_82delinsCTCA MANE Select	NP_835465.2:p.Leu27=