Canonical Allele Identifier: CA2616001444

Gene: PTS

Linked Data

• gnomAD v4: 11-112233139-ATTTTCCCTTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233144_112233154del , CM000673.2:g.112233144_112233154del	GRCh38
NC_000011.9:g.112103867_112103877del , CM000673.1:g.112103867_112103877del	GRCh37
NC_000011.8:g.111609077_111609087del	NCBI36
NG_008743.1:g.11780_11790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.244-19_244-9del MANE Select	ENSP00000280362.3:n.244-19_244-9del
ENST00000280362.7:c.244-19_244-9del	ENSP00000280362.3:n.244-19_244-9del
ENST00000524931.1:c.40-19_40-9del	ENSP00000434688.1:n.40-19_40-9del
ENST00000525803.1:c.164-19_164-9del	ENSP00000431750.1:n.164-19_164-9del
ENST00000527428.5:n.418-19_418-9del
ENST00000527635.1:n.285-19_285-9del
ENST00000528679.5:c.*53-19_*53-9del	ENSP00000435895.1:n.*53-19_*53-9del
ENST00000531175.1:n.195-19_195-9del
ENST00000531673.5:c.*53-19_*53-9del	ENSP00000433469.1:n.*53-19_*53-9del
NM_000317.2:c.244-19_244-9del	NP_000308.1:n.244-19_244-9del
XM_011542943.1:c.205-19_205-9del	XP_011541245.1:n.205-19_205-9del
NM_000317.3:c.244-19_244-9del MANE Select	NP_000308.1:n.244-19_244-9del