Canonical Allele Identifier: CA2616001633

Gene: PTS

Linked Data

• gnomAD v4: 11-112233376-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233379del , CM000673.2:g.112233379del	GRCh38
NC_000011.9:g.112104102del , CM000673.1:g.112104102del	GRCh37
NC_000011.8:g.111609312del	NCBI36
NG_008743.1:g.12015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-53del MANE Select	ENSP00000280362.3:n.315-53del
ENST00000280362.7:c.315-53del	ENSP00000280362.3:n.315-53del
ENST00000524931.1:c.111-53del	ENSP00000434688.1:n.111-53del
ENST00000525803.1:c.*49-53del	ENSP00000431750.1:n.*49-53del
ENST00000527428.5:n.488+146del
ENST00000527635.1:n.356-53del
ENST00000528679.5:c.*124-53del	ENSP00000435895.1:n.*124-53del
ENST00000531175.1:n.411del
ENST00000531673.5:c.*123+146del	ENSP00000433469.1:n.*123+146del
NM_000317.2:c.315-53del	NP_000308.1:n.315-53del
XM_011542943.1:c.276-53del	XP_011541245.1:n.276-53del
NM_000317.3:c.315-53del MANE Select	NP_000308.1:n.315-53del