Canonical Allele Identifier: CA6278448

Gene: PTS

Linked Data

• dbSNP Id: rs368800549
• ExAC: 11:112099294 C / CTT
• gnomAD v2: 11-112099294-C-CTT
• gnomAD v3: 11-112228571-C-CTT
• gnomAD v4: 11-112228571-C-CTT
• MyVariant Identifiers: chr11:g.112099297_112099298insTT (hg19) ; chr11:g.112099296_112099297insTT (hg19) ; chr11:g.112099294_112099295insTT (hg19) ; chr11:g.112228571_112228572insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228586_112228587dup , CM000673.2:g.112228586_112228587dup	GRCh38
NC_000011.9:g.112099309_112099310dup , CM000673.1:g.112099309_112099310dup	GRCh37
NC_000011.8:g.111604519_111604520dup	NCBI36
NG_008743.1:g.7222_7223dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.84-8_84-7dup MANE Select	ENSP00000280362.3:n.84-8_84-7dup
ENST00000280362.7:c.84-8_84-7dup	ENSP00000280362.3:n.84-8_84-7dup
ENST00000524931.1:c.-121-8_-121-7dup	ENSP00000434688.1:n.-121-8_-121-7dup
ENST00000525645.1:n.159-8_159-7dup
ENST00000525803.1:c.84-8_84-7dup	ENSP00000431750.1:n.84-8_84-7dup
ENST00000528679.5:c.84-8_84-7dup	ENSP00000435895.1:n.84-8_84-7dup
ENST00000531673.5:c.84-8_84-7dup	ENSP00000433469.1:n.84-8_84-7dup
NM_000317.2:c.84-8_84-7dup	NP_000308.1:n.84-8_84-7dup
NM_000317.3:c.84-8_84-7dup MANE Select	NP_000308.1:n.84-8_84-7dup