Canonical Allele Identifier: CA2574980264
Gene: PTS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228684_112228685del , CM000673.2:g.112228684_112228685del GRCh38
NC_000011.9:g.112099407_112099408del , CM000673.1:g.112099407_112099408del GRCh37
NC_000011.8:g.111604617_111604618del NCBI36
NG_008743.1:g.7320_7321del

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.163+11_163+12del MANE Select ENSP00000280362.3:n.163+11_163+12del
ENST00000280362.7:c.163+11_163+12del ENSP00000280362.3:n.163+11_163+12del
ENST00000524931.1:c.-42+11_-42+12del ENSP00000434688.1:n.-42+11_-42+12del
ENST00000525645.1:n.249_250del
ENST00000525803.1:c.163+11_163+12del ENSP00000431750.1:n.163+11_163+12del
ENST00000528679.5:c.163+11_163+12del ENSP00000435895.1:n.163+11_163+12del
ENST00000531673.5:c.163+11_163+12del ENSP00000433469.1:n.163+11_163+12del
NM_000317.2:c.163+11_163+12del NP_000308.1:n.163+11_163+12del
XM_011542943.1:c.-679_-678del XP_011541245.1:n.-679_-678del
NM_000317.3:c.163+11_163+12del MANE Select NP_000308.1:n.163+11_163+12del