Canonical Allele Identifier: CA599857820

Gene: PACS1

Linked Data

• dbSNP Id: rs1207487965
• gnomAD v2: 11-66009466-TC-T
• gnomAD v3: 11-66241995-TC-T
• gnomAD v4: 11-66241995-TC-T
• MyVariant Identifiers: chr11:g.66009467del (hg19) ; chr11:g.66241996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241997del , CM000673.2:g.66241997del	GRCh38
NC_000011.9:g.66009468del , CM000673.1:g.66009468del	GRCh37
NC_000011.8:g.65766044del	NCBI36
NG_033900.1:g.176645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+344del MANE Select	ENSP00000316454.4:n.2656+344del
ENST00000320580.8:c.2656+344del	ENSP00000316454.4:n.2656+344del
ENST00000524815.5:c.40+344del	ENSP00000433991.1:n.40+344del
ENST00000529677.1:c.206+344del
ENST00000529757.5:c.1264+344del	ENSP00000432858.1:n.1264+344del
ENST00000531597.1:c.40+344del	ENSP00000434012.1:n.40+344del
NM_018026.3:c.2656+344del	NP_060496.2:n.2656+344del
XM_011545162.1:c.2335+344del	XP_011543464.1:n.2335+344del
XM_011545163.1:c.2326+344del	XP_011543465.1:n.2326+344del
XM_011545164.1:c.2317+344del	XP_011543466.1:n.2317+344del
XM_011545164.2:c.2317+344del	XP_011543466.1:n.2317+344del
NM_018026.4:c.2656+344del MANE Select	NP_060496.2:n.2656+344del