Canonical Allele Identifier: CA2695215390

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233208_112233209insCTT , CM000673.2:g.112233208_112233209insCTT	GRCh38
NC_000011.9:g.112103931_112103932insCTT , CM000673.1:g.112103931_112103932insCTT	GRCh37
NC_000011.8:g.111609141_111609142insCTT	NCBI36
NG_008743.1:g.11844_11845insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.289_290insCTT MANE Select	ENSP00000280362.3:p.Val97delinsAlaLeu
ENST00000280362.7:c.289_290insCTT	ENSP00000280362.3:p.Val97delinsAlaLeu
ENST00000524931.1:c.85_86insCTT	ENSP00000434688.1:p.Val29delinsAlaLeu
ENST00000525803.1:c.*23_*24insCTT	ENSP00000431750.1:n.*23_*24insCTT
ENST00000527428.5:n.463_464insCTT
ENST00000527635.1:n.330_331insCTT
ENST00000528679.5:c.*98_*99insCTT	ENSP00000435895.1:n.*98_*99insCTT
ENST00000531175.1:n.240_241insCTT
ENST00000531673.5:c.*98_*99insCTT	ENSP00000433469.1:n.*98_*99insCTT
NM_000317.2:c.289_290insCTT	NP_000308.1:p.Val97delinsAlaLeu
XM_011542943.1:c.250_251insCTT	XP_011541245.1:p.Val84delinsAlaLeu
NM_000317.3:c.289_290insCTT MANE Select	NP_000308.1:p.Val97delinsAlaLeu