Canonical Allele Identifier: CA1591312130

Gene: GM2A

Linked Data

• dbSNP Id: rs1753763762

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259899_151259900del , CM000667.2:g.151259899_151259900del	GRCh38
NC_000005.9:g.150639460_150639461del , CM000667.1:g.150639460_150639461del	GRCh37
NC_000005.8:g.150619653_150619654del	NCBI36
NG_009059.1:g.11848_11849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.226_227del MANE Select	ENSP00000349687.3:p.Leu76GlufsTer?
ENST00000357164.3:c.226_227del	ENSP00000349687.3:p.Leu76GlufsTer?
ENST00000523004.1:c.101_102del
ENST00000523466.5:c.271_272del	ENSP00000429100.1:p.Leu91GlufsTer?
NM_000405.4:c.226_227del	NP_000396.2:p.Leu76GlufsTer?
NM_001167607.1:c.226_227del	NP_001161079.1:p.Leu76GlufsTer?
NM_000405.5:c.226_227del MANE Select	NP_000396.2:p.Leu76GlufsTer?
NM_001167607.2:c.226_227del	NP_001161079.1:p.Leu76GlufsTer?
NM_001167607.3:c.226_227del	NP_001161079.1:p.Leu76GlufsTer?