Canonical Allele Identifier: CA6278572

Gene: PTS

Linked Data

• dbSNP Id: rs753698606
• ExAC: 11:112104123 ATTT / A
• gnomAD v2: 11-112104123-ATTT-A
• gnomAD v4: 11-112233400-ATTT-A
• MyVariant Identifiers: chr11:g.112104124_112104126del (hg19) ; chr11:g.112233401_112233403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233406_112233408del , CM000673.2:g.112233406_112233408del	GRCh38
NC_000011.9:g.112104129_112104131del , CM000673.1:g.112104129_112104131del	GRCh37
NC_000011.8:g.111609339_111609341del	NCBI36
NG_008743.1:g.12042_12044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-26_315-24del MANE Select	ENSP00000280362.3:n.315-26_315-24del
ENST00000280362.7:c.315-26_315-24del	ENSP00000280362.3:n.315-26_315-24del
ENST00000524931.1:c.111-26_111-24del	ENSP00000434688.1:n.111-26_111-24del
ENST00000525803.1:c.*49-26_*49-24del	ENSP00000431750.1:n.*49-26_*49-24del
ENST00000527428.5:n.488+173_488+175del
ENST00000527635.1:n.356-26_356-24del
ENST00000528679.5:c.*124-26_*124-24del	ENSP00000435895.1:n.*124-26_*124-24del
ENST00000531673.5:c.*123+173_*123+175del	ENSP00000433469.1:n.*123+173_*123+175del
NM_000317.2:c.315-26_315-24del	NP_000308.1:n.315-26_315-24del
XM_011542943.1:c.276-26_276-24del	XP_011541245.1:n.276-26_276-24del
NM_000317.3:c.315-26_315-24del MANE Select	NP_000308.1:n.315-26_315-24del