Canonical Allele Identifier: CA1591314927

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151266763_151266764delinsTT , CM000667.2:g.151266763_151266764delinsTT	GRCh38
NC_000005.9:g.150646324_150646325delinsTT , CM000667.1:g.150646324_150646325delinsTT	GRCh37
NC_000005.8:g.150626517_150626518delinsTT	NCBI36
NG_009059.1:g.18712_18713delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000405.5:c.276_277delinsTT MANE Select	NP_000396.2:p.Leu93Phe
ENST00000357164.4:c.276_277delinsTT MANE Select	ENSP00000349687.3:p.Leu93Phe
NM_000405.4:c.276_277delinsTT	NP_000396.2:p.Leu93Phe
NM_001167607.1:c.276_277delinsTT	NP_001161079.1:p.Leu93Phe
NM_001167607.2:c.276_277delinsTT	NP_001161079.1:p.Leu93Phe
NM_001167607.3:c.276_277delinsTT	NP_001161079.1:p.Leu93Phe
ENST00000357164.3:c.276_277delinsTT	ENSP00000349687.3:p.Leu93Phe
ENST00000523004.1:c.151_152delinsTT
ENST00000523466.5:c.321_322delinsTT	ENSP00000429100.1:p.Leu108Phe