Canonical Allele Identifier: CA288351837

Gene: PEMT

Linked Data

• dbSNP Id: rs1555535802

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506245_17506246delinsT , CM000679.2:g.17506245_17506246delinsT	GRCh38
NC_000017.10:g.17409559_17409560delinsT , CM000679.1:g.17409559_17409560delinsT	GRCh37
NC_000017.9:g.17350284_17350285delinsT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.634_635delinsA MANE Select	ENSP00000255389.5:p.Val212ArgfsTer27
ENST00000255389.9:c.634_635delinsA	ENSP00000255389.5:p.Val212ArgfsTer27
ENST00000395781.6:c.665_666delinsA	ENSP00000379127.2:p.Ser222LysfsTer26
ENST00000395782.5:c.523_524delinsA	ENSP00000379128.1:p.Val175ArgfsTer27
ENST00000395783.5:c.523_524delinsA	ENSP00000379129.1:p.Val175ArgfsTer27
ENST00000435340.6:c.602_603delinsA	ENSP00000391288.2:p.Ser201LysfsTer26
ENST00000477595.5:n.128_129delinsA
ENST00000484838.6:n.498_499delinsA
ENST00000490392.5:n.368_369delinsA
ENST00000580147.5:c.*132_*133delinsA	ENSP00000463112.1:n.*132_*133delinsA
ENST00000582268.5:n.78_79delinsA
NM_001267551.1:c.568_569delinsA	NP_001254480.1:p.Val190ArgfsTer27
NM_001267552.1:c.665_666delinsA	NP_001254481.1:p.Ser222LysfsTer26
NM_007169.2:c.523_524delinsA	NP_009100.2:p.Val175ArgfsTer27
NM_148172.2:c.634_635delinsA	NP_680477.1:p.Val212ArgfsTer27
NM_148173.1:c.523_524delinsA	NP_680478.1:p.Val175ArgfsTer27
XM_006721418.2:c.571_572delinsA	XP_006721481.2:p.Val191ArgfsTer27
XM_006721418.4:c.571_572delinsA	XP_006721481.2:p.Val191ArgfsTer27
XM_017024016.1:c.301_302delinsA	XP_016879505.1:p.Val101ArgfsTer27
XM_024450532.1:c.523_524delinsA	XP_024306300.1:p.Val175ArgfsTer27
NM_148172.3:c.634_635delinsA MANE Select	NP_680477.1:p.Val212ArgfsTer27
NM_001267551.2:c.568_569delinsA	NP_001254480.1:p.Val190ArgfsTer27
NM_001267552.2:c.665_666delinsA	NP_001254481.1:p.Ser222LysfsTer26
NM_007169.3:c.523_524delinsA	NP_009100.2:p.Val175ArgfsTer27
NM_148173.2:c.523_524delinsA	NP_680478.1:p.Val175ArgfsTer27