Canonical Allele Identifier: CA2676067277

Gene: GM2A

Linked Data

• gnomAD v4: 5-151259918-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259920_151259921del , CM000667.2:g.151259920_151259921del	GRCh38
NC_000005.9:g.150639481_150639482del , CM000667.1:g.150639481_150639482del	GRCh37
NC_000005.8:g.150619674_150619675del	NCBI36
NG_009059.1:g.11869_11870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.243+4_243+5del MANE Select	ENSP00000349687.3:n.243+4_243+5del
ENST00000357164.3:c.243+4_243+5del	ENSP00000349687.3:n.243+4_243+5del
ENST00000523004.1:c.118+4_118+5del
ENST00000523466.5:c.288+4_288+5del	ENSP00000429100.1:n.288+4_288+5del
NM_000405.4:c.243+4_243+5del	NP_000396.2:n.243+4_243+5del
NM_001167607.1:c.243+4_243+5del	NP_001161079.1:n.243+4_243+5del
NM_000405.5:c.243+4_243+5del MANE Select	NP_000396.2:n.243+4_243+5del
NM_001167607.2:c.243+4_243+5del	NP_001161079.1:n.243+4_243+5del
NM_001167607.3:c.243+4_243+5del	NP_001161079.1:n.243+4_243+5del