Canonical Allele Identifier: CA679372509

Gene: PACS1

Linked Data

• dbSNP Id: rs1262443145
• gnomAD v3: 11-66241971-GGA-G
• gnomAD v4: 11-66241971-GGA-G
• MyVariant Identifiers: chr11:g.66009443_66009444del (hg19) ; chr11:g.66241972_66241973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241975_66241976del , CM000673.2:g.66241975_66241976del	GRCh38
NC_000011.9:g.66009446_66009447del , CM000673.1:g.66009446_66009447del	GRCh37
NC_000011.8:g.65766022_65766023del	NCBI36
NG_033900.1:g.176623_176624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+322_2656+323del MANE Select	ENSP00000316454.4:n.2656+322_2656+323del
ENST00000320580.8:c.2656+322_2656+323del	ENSP00000316454.4:n.2656+322_2656+323del
ENST00000524815.5:c.40+322_40+323del	ENSP00000433991.1:n.40+322_40+323del
ENST00000529677.1:c.206+322_206+323del
ENST00000529757.5:c.1264+322_1264+323del	ENSP00000432858.1:n.1264+322_1264+323del
ENST00000531597.1:c.40+322_40+323del	ENSP00000434012.1:n.40+322_40+323del
NM_018026.3:c.2656+322_2656+323del	NP_060496.2:n.2656+322_2656+323del
XM_011545162.1:c.2335+322_2335+323del	XP_011543464.1:n.2335+322_2335+323del
XM_011545163.1:c.2326+322_2326+323del	XP_011543465.1:n.2326+322_2326+323del
XM_011545164.1:c.2317+322_2317+323del	XP_011543466.1:n.2317+322_2317+323del
XM_011545164.2:c.2317+322_2317+323del	XP_011543466.1:n.2317+322_2317+323del
NM_018026.4:c.2656+322_2656+323del MANE Select	NP_060496.2:n.2656+322_2656+323del