Canonical Allele Identifier: CA625027715

Gene: PEMT

Linked Data

• dbSNP Id: rs1248022715
• gnomAD v2: 17-17486388-AAAG-A
• gnomAD v3: 17-17583074-AAAG-A
• gnomAD v4: 17-17583074-AAAG-A
• MyVariant Identifiers: chr17:g.17486389_17486391del (hg19) ; chr17:g.17583075_17583077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583081_17583083del , CM000679.2:g.17583081_17583083del	GRCh38
NC_000017.10:g.17486395_17486397del , CM000679.1:g.17486395_17486397del	GRCh37
NC_000017.9:g.17427120_17427122del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.97-6050_97-6048del MANE Select	ENSP00000255389.5:n.97-6050_97-6048del
ENST00000255389.9:c.97-6050_97-6048del	ENSP00000255389.5:n.97-6050_97-6048del
ENST00000395781.6:c.97-6050_97-6048del	ENSP00000379127.2:n.97-6050_97-6048del
ENST00000421096.5:n.121-6050_121-6048del
ENST00000435340.6:c.31-6050_31-6048del	ENSP00000391288.2:n.31-6050_31-6048del
ENST00000461404.1:c.97-6050_97-6048del	ENSP00000463713.1:n.97-6050_97-6048del
ENST00000472446.1:n.108-6050_108-6048del
ENST00000580147.5:c.97-6050_97-6048del	ENSP00000463112.1:n.97-6050_97-6048del
NM_001267551.1:c.31-6050_31-6048del	NP_001254480.1:n.31-6050_31-6048del
NM_001267552.1:c.97-6050_97-6048del	NP_001254481.1:n.97-6050_97-6048del
NM_148172.2:c.97-6050_97-6048del	NP_680477.1:n.97-6050_97-6048del
XM_024450532.1:c.-15-6050_-15-6048del	XP_024306300.1:n.-15-6050_-15-6048del
NM_148172.3:c.97-6050_97-6048del MANE Select	NP_680477.1:n.97-6050_97-6048del
NM_001267551.2:c.31-6050_31-6048del	NP_001254480.1:n.31-6050_31-6048del
NM_001267552.2:c.97-6050_97-6048del	NP_001254481.1:n.97-6050_97-6048del