Canonical Allele Identifier: CA2616000003

Gene: PTS

Linked Data

• gnomAD v4: 11-112228676-GAGAGAAAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228677_112228686del , CM000673.2:g.112228677_112228686del	GRCh38
NC_000011.9:g.112099400_112099409del , CM000673.1:g.112099400_112099409del	GRCh37
NC_000011.8:g.111604610_111604619del	NCBI36
NG_008743.1:g.7313_7322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.163+4_163+13del MANE Select	ENSP00000280362.3:n.163+4_163+13del
ENST00000280362.7:c.163+4_163+13del	ENSP00000280362.3:n.163+4_163+13del
ENST00000524931.1:c.-42+4_-42+13del	ENSP00000434688.1:n.-42+4_-42+13del
ENST00000525645.1:n.242_251del
ENST00000525803.1:c.163+4_163+13del	ENSP00000431750.1:n.163+4_163+13del
ENST00000528679.5:c.163+4_163+13del	ENSP00000435895.1:n.163+4_163+13del
ENST00000531673.5:c.163+4_163+13del	ENSP00000433469.1:n.163+4_163+13del
NM_000317.2:c.163+4_163+13del	NP_000308.1:n.163+4_163+13del
NM_000317.3:c.163+4_163+13del MANE Select	NP_000308.1:n.163+4_163+13del