Canonical Allele Identifier: CA2616001405

Gene: PTS

Linked Data

• gnomAD v4: 11-112233054-TTTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233060_112233063del , CM000673.2:g.112233060_112233063del	GRCh38
NC_000011.9:g.112103783_112103786del , CM000673.1:g.112103783_112103786del	GRCh37
NC_000011.8:g.111608993_111608996del	NCBI36
NG_008743.1:g.11696_11699del

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.244-103_244-100del MANE Select	ENSP00000280362.3:n.244-103_244-100del
ENST00000280362.7:c.244-103_244-100del	ENSP00000280362.3:n.244-103_244-100del
ENST00000524931.1:c.40-103_40-100del	ENSP00000434688.1:n.40-103_40-100del
ENST00000525803.1:c.164-103_164-100del	ENSP00000431750.1:n.164-103_164-100del
ENST00000527428.5:n.418-103_418-100del
ENST00000527635.1:n.285-103_285-100del
ENST00000528679.5:c.*53-103_*53-100del	ENSP00000435895.1:n.*53-103_*53-100del
ENST00000531175.1:n.195-103_195-100del
ENST00000531673.5:c.*53-103_*53-100del	ENSP00000433469.1:n.*53-103_*53-100del
NM_000317.2:c.244-103_244-100del	NP_000308.1:n.244-103_244-100del
XM_011542943.1:c.205-103_205-100del	XP_011541245.1:n.205-103_205-100del
NM_000317.3:c.244-103_244-100del MANE Select	NP_000308.1:n.244-103_244-100del