Canonical Allele Identifier: CA2636376370

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506246-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506247_17506248insTT , CM000679.2:g.17506247_17506248insTT	GRCh38
NC_000017.10:g.17409561_17409562insTT , CM000679.1:g.17409561_17409562insTT	GRCh37
NC_000017.9:g.17350286_17350287insTT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.633_634insAA MANE Select	ENSP00000255389.5:p.Val212LysfsTer28
ENST00000255389.9:c.633_634insAA	ENSP00000255389.5:p.Val212LysfsTer28
ENST00000395781.6:c.664_665insAA	ENSP00000379127.2:p.Ser222LysfsTer27
ENST00000395782.5:c.522_523insAA	ENSP00000379128.1:p.Val175LysfsTer28
ENST00000395783.5:c.522_523insAA	ENSP00000379129.1:p.Val175LysfsTer28
ENST00000435340.6:c.601_602insAA	ENSP00000391288.2:p.Ser201LysfsTer27
ENST00000477595.5:n.127_128insAA
ENST00000484838.6:n.497_498insAA
ENST00000490392.5:n.367_368insAA
ENST00000580147.5:c.*131_*132insAA	ENSP00000463112.1:n.*131_*132insAA
ENST00000582268.5:n.77_78insAA
NM_001267551.1:c.567_568insAA	NP_001254480.1:p.Val190LysfsTer28
NM_001267552.1:c.664_665insAA	NP_001254481.1:p.Ser222LysfsTer27
NM_007169.2:c.522_523insAA	NP_009100.2:p.Val175LysfsTer28
NM_148172.2:c.633_634insAA	NP_680477.1:p.Val212LysfsTer28
NM_148173.1:c.522_523insAA	NP_680478.1:p.Val175LysfsTer28
XM_006721418.2:c.570_571insAA	XP_006721481.2:p.Val191LysfsTer28
XM_006721418.4:c.570_571insAA	XP_006721481.2:p.Val191LysfsTer28
XM_017024016.1:c.300_301insAA	XP_016879505.1:p.Val101LysfsTer28
XM_024450532.1:c.522_523insAA	XP_024306300.1:p.Val175LysfsTer28
NM_148172.3:c.633_634insAA MANE Select	NP_680477.1:p.Val212LysfsTer28
NM_001267551.2:c.567_568insAA	NP_001254480.1:p.Val190LysfsTer28
NM_001267552.2:c.664_665insAA	NP_001254481.1:p.Ser222LysfsTer27
NM_007169.3:c.522_523insAA	NP_009100.2:p.Val175LysfsTer28
NM_148173.2:c.522_523insAA	NP_680478.1:p.Val175LysfsTer28