Canonical Allele Identifier: CA2250575622

Gene: PEMT

Linked Data

• dbSNP Id: rs1912067765

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583123_17583130del , CM000679.2:g.17583123_17583130del	GRCh38
NC_000017.10:g.17486437_17486444del , CM000679.1:g.17486437_17486444del	GRCh37
NC_000017.9:g.17427162_17427169del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.97-6101_97-6094del MANE Select	ENSP00000255389.5:n.97-6101_97-6094del
ENST00000255389.9:c.97-6101_97-6094del	ENSP00000255389.5:n.97-6101_97-6094del
ENST00000395781.6:c.97-6101_97-6094del	ENSP00000379127.2:n.97-6101_97-6094del
ENST00000421096.5:n.121-6101_121-6094del
ENST00000435340.6:c.31-6101_31-6094del	ENSP00000391288.2:n.31-6101_31-6094del
ENST00000461404.1:c.97-6101_97-6094del	ENSP00000463713.1:n.97-6101_97-6094del
ENST00000472446.1:n.108-6101_108-6094del
ENST00000580147.5:c.97-6101_97-6094del	ENSP00000463112.1:n.97-6101_97-6094del
NM_001267551.1:c.31-6101_31-6094del	NP_001254480.1:n.31-6101_31-6094del
NM_001267552.1:c.97-6101_97-6094del	NP_001254481.1:n.97-6101_97-6094del
NM_148172.2:c.97-6101_97-6094del	NP_680477.1:n.97-6101_97-6094del
XM_024450532.1:c.-15-6101_-15-6094del	XP_024306300.1:n.-15-6101_-15-6094del
NM_148172.3:c.97-6101_97-6094del MANE Select	NP_680477.1:n.97-6101_97-6094del
NM_001267551.2:c.31-6101_31-6094del	NP_001254480.1:n.31-6101_31-6094del
NM_001267552.2:c.97-6101_97-6094del	NP_001254481.1:n.97-6101_97-6094del