Canonical Allele Identifier: CA2616001670

Gene: PTS

Linked Data

• gnomAD v4: 11-112233403-T-TTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233415_112233420dup , CM000673.2:g.112233415_112233420dup	GRCh38
NC_000011.9:g.112104138_112104143dup , CM000673.1:g.112104138_112104143dup	GRCh37
NC_000011.8:g.111609348_111609353dup	NCBI36
NG_008743.1:g.12051_12056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-17_315-12dup MANE Select	ENSP00000280362.3:n.315-17_315-12dup
ENST00000280362.7:c.315-17_315-12dup	ENSP00000280362.3:n.315-17_315-12dup
ENST00000524931.1:c.111-17_111-12dup	ENSP00000434688.1:n.111-17_111-12dup
ENST00000525803.1:c.*49-17_*49-12dup	ENSP00000431750.1:n.*49-17_*49-12dup
ENST00000527428.5:n.488+182_488+187dup
ENST00000527635.1:n.356-17_356-12dup
ENST00000528679.5:c.*124-17_*124-12dup	ENSP00000435895.1:n.*124-17_*124-12dup
ENST00000531673.5:c.*123+182_*123+187dup	ENSP00000433469.1:n.*123+182_*123+187dup
NM_000317.2:c.315-17_315-12dup	NP_000308.1:n.315-17_315-12dup
XM_011542943.1:c.276-17_276-12dup	XP_011541245.1:n.276-17_276-12dup
NM_000317.3:c.315-17_315-12dup MANE Select	NP_000308.1:n.315-17_315-12dup