Canonical Allele Identifier: CA938962491

Gene: PACS1

Linked Data

• dbSNP Id: rs1855826044
• gnomAD v3: 11-66242021-AGAAC-A
• gnomAD v4: 11-66242021-AGAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66242022_66242025del , CM000673.2:g.66242022_66242025del	GRCh38
NC_000011.9:g.66009493_66009496del , CM000673.1:g.66009493_66009496del	GRCh37
NC_000011.8:g.65766069_65766072del	NCBI36
NG_033900.1:g.176670_176673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+369_2656+372del MANE Select	ENSP00000316454.4:n.2656+369_2656+372del
ENST00000320580.8:c.2656+369_2656+372del	ENSP00000316454.4:n.2656+369_2656+372del
ENST00000524815.5:c.40+369_40+372del	ENSP00000433991.1:n.40+369_40+372del
ENST00000529677.1:c.206+369_206+372del
ENST00000529757.5:c.1264+369_1264+372del	ENSP00000432858.1:n.1264+369_1264+372del
ENST00000531597.1:c.40+369_40+372del	ENSP00000434012.1:n.40+369_40+372del
NM_018026.3:c.2656+369_2656+372del	NP_060496.2:n.2656+369_2656+372del
XM_011545162.1:c.2335+369_2335+372del	XP_011543464.1:n.2335+369_2335+372del
XM_011545163.1:c.2326+369_2326+372del	XP_011543465.1:n.2326+369_2326+372del
XM_011545164.1:c.2317+369_2317+372del	XP_011543466.1:n.2317+369_2317+372del
XM_011545164.2:c.2317+369_2317+372del	XP_011543466.1:n.2317+369_2317+372del
NM_018026.4:c.2656+369_2656+372del MANE Select	NP_060496.2:n.2656+369_2656+372del