Canonical Allele Identifier: CA2250575477

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583061_17583067delinsCAAAAAA , CM000679.2:g.17583061_17583067delinsCAAAAAA	GRCh38
NC_000017.10:g.17486375_17486381delinsCAAAAAA , CM000679.1:g.17486375_17486381delinsCAAAAAA	GRCh37
NC_000017.9:g.17427100_17427106delinsCAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.97-6040_97-6034delinsTTTTTTG MANE Select	ENSP00000255389.5:n.97-6040_97-6034delinsTTTTTTG
ENST00000255389.9:c.97-6040_97-6034delinsTTTTTTG	ENSP00000255389.5:n.97-6040_97-6034delinsTTTTTTG
ENST00000395781.6:c.97-6040_97-6034delinsTTTTTTG	ENSP00000379127.2:n.97-6040_97-6034delinsTTTTTTG
ENST00000421096.5:n.121-6040_121-6034delinsTTTTTTG
ENST00000435340.6:c.31-6040_31-6034delinsTTTTTTG	ENSP00000391288.2:n.31-6040_31-6034delinsTTTTTTG
ENST00000461404.1:c.97-6040_97-6034delinsTTTTTTG	ENSP00000463713.1:n.97-6040_97-6034delinsTTTTTTG
ENST00000472446.1:n.108-6040_108-6034delinsTTTTTTG
ENST00000580147.5:c.97-6040_97-6034delinsTTTTTTG	ENSP00000463112.1:n.97-6040_97-6034delinsTTTTTTG
NM_001267551.1:c.31-6040_31-6034delinsTTTTTTG	NP_001254480.1:n.31-6040_31-6034delinsTTTTTTG
NM_001267552.1:c.97-6040_97-6034delinsTTTTTTG	NP_001254481.1:n.97-6040_97-6034delinsTTTTTTG
NM_148172.2:c.97-6040_97-6034delinsTTTTTTG	NP_680477.1:n.97-6040_97-6034delinsTTTTTTG
XM_024450532.1:c.-15-6040_-15-6034delinsTTTTTTG	XP_024306300.1:n.-15-6040_-15-6034delinsTTTTTTG
NM_148172.3:c.97-6040_97-6034delinsTTTTTTG MANE Select	NP_680477.1:n.97-6040_97-6034delinsTTTTTTG
NM_001267551.2:c.31-6040_31-6034delinsTTTTTTG	NP_001254480.1:n.31-6040_31-6034delinsTTTTTTG
NM_001267552.2:c.97-6040_97-6034delinsTTTTTTG	NP_001254481.1:n.97-6040_97-6034delinsTTTTTTG