Canonical Allele Identifier: CA2793651167

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233241_112233385del , CM000673.2:g.112233241_112233385del	GRCh38
NC_000011.9:g.112103964_112104108del , CM000673.1:g.112103964_112104108del	GRCh37
NC_000011.8:g.111609174_111609318del	NCBI36
NG_008743.1:g.11877_12021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+8_315-47del MANE Select	ENSP00000280362.3:n.314+8_315-47del
ENST00000280362.7:c.314+8_315-47del	ENSP00000280362.3:n.314+8_315-47del
ENST00000524931.1:c.110+8_111-47del	ENSP00000434688.1:n.110+8_111-47del
ENST00000525803.1:c.*48+8_*49-47del	ENSP00000431750.1:n.*48+8_*49-47del
ENST00000527428.5:n.488+8_488+152del
ENST00000527635.1:n.355+8_356-47del
ENST00000528679.5:c.*123+8_*124-47del	ENSP00000435895.1:n.*123+8_*124-47del
ENST00000531175.1:n.273_417del
ENST00000531673.5:c.*123+8_*123+152del	ENSP00000433469.1:n.*123+8_*123+152del
NM_000317.2:c.314+8_315-47del	NP_000308.1:n.314+8_315-47del
XM_011542943.1:c.275+8_276-47del	XP_011541245.1:n.275+8_276-47del
NM_000317.3:c.314+8_315-47del MANE Select	NP_000308.1:n.314+8_315-47del