Canonical Allele Identifier: CA2616000001

Gene: PTS

Linked Data

• gnomAD v4: 11-112228669-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228672del , CM000673.2:g.112228672del	GRCh38
NC_000011.9:g.112099395del , CM000673.1:g.112099395del	GRCh37
NC_000011.8:g.111604605del	NCBI36
NG_008743.1:g.7308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.162del MANE Select	ENSP00000280362.3:p.Val55LeufsTer3
ENST00000280362.7:c.162del	ENSP00000280362.3:p.Val55LeufsTer3
ENST00000524931.1:c.-43del	ENSP00000434688.1:n.-43del
ENST00000525645.1:n.237del
ENST00000525803.1:c.162del	ENSP00000431750.1:p.Gly55GlufsTer?
ENST00000528679.5:c.162del	ENSP00000435895.1:p.Asp55IlefsTer?
ENST00000531673.5:c.162del	ENSP00000433469.1:p.Asp55IlefsTer?
NM_000317.2:c.162del	NP_000308.1:p.Val55LeufsTer3
NM_000317.3:c.162del MANE Select	NP_000308.1:p.Val55LeufsTer3