Canonical Allele Identifier: CA10635169

Gene: PTF1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.23194066_23194068del , CM000672.2:g.23194066_23194068del	GRCh38
NC_000010.10:g.23482995_23482997del , CM000672.1:g.23482995_23482997del	GRCh37
NC_000010.9:g.23523001_23523003del	NCBI36
NG_009798.1:g.6536_6538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376504.4:c.*160_*162del MANE Select	ENSP00000365687.3:n.*160_*162del
ENST00000639082.1:c.359_361del
ENST00000639873.1:c.455_457del	ENSP00000491542.1:n.455_457del
ENST00000640579.1:c.388_390del
ENST00000640697.1:c.378_380del
ENST00000376504.3:c.*160_*162del	ENSP00000365687.3:n.*160_*162del
NM_178161.2:c.1147_1149del	NP_835455.1:n.1147_1149del
NM_178161.3:c.*160_*162del MANE Select	NP_835455.1:n.*160_*162del