Canonical Allele Identifier: CA2779419

Gene: PCYT1A SLC51A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196239608_196239610del , CM000665.2:g.196239608_196239610del	GRCh38
NC_000003.11:g.195966479_195966481del , CM000665.1:g.195966479_195966481del	GRCh37
NC_000003.10:g.197450876_197450878del	NCBI36
NG_042817.1:g.53147_53149del

Transcript Alleles

HGVS	Amino-acid Change
NM_001312673.2:c.838_840del (PCYT1A) MANE Select	NP_001299602.1:p.Glu280del
ENST00000431016.6:c.838_840del (PCYT1A) MANE Select	ENSP00000394617.1:p.Glu280del
NM_001312673.1:c.838_840del (PCYT1A)	NP_001299602.1:p.Glu280del
NM_005017.2:c.838_840del (PCYT1A)	NP_005008.2:p.Glu280del
NM_005017.3:c.838_840del (PCYT1A)	NP_005008.2:p.Glu280del
NM_005017.4:c.838_840del (PCYT1A)	NP_005008.2:p.Glu280del
ENST00000292823.6:c.838_840del (PCYT1A)	ENSP00000292823.2:p.Glu280del
ENST00000411591.5:c.838_840del (PCYT1A)	ENSP00000400430.1:p.Glu280del
ENST00000415111.1:c.58-2886_58-2884del (SLC51A)	ENSP00000409560.1:n.58-2886_58-2884del
ENST00000419333.5:c.838_840del (PCYT1A)	ENSP00000390968.1:p.Glu280del
ENST00000431016.5:c.838_840del (PCYT1A)	ENSP00000394617.1:p.Glu280del
ENST00000441879.5:c.486+7761_486+7763del (PCYT1A)	ENSP00000392397.1:n.486+7761_486+7763del
ENST00000460827.1:n.399_401del (PCYT1A)
ENST00000496737.1:n.418-1013_418-1011del (SLC51A)