Canonical Allele Identifier: CA122918633

Gene: PCSK1

Linked Data

• dbSNP Id: rs756457273
• gnomAD v4: 5-96416021-CCT-C
• MyVariant Identifiers: chr5:g.95751726_95751727del (hg19) ; chr5:g.96416022_96416023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416024_96416025del , CM000667.2:g.96416024_96416025del	GRCh38
NC_000005.9:g.95751728_95751729del , CM000667.1:g.95751728_95751729del	GRCh37
NC_000005.8:g.95777484_95777485del	NCBI36
NG_021161.1:g.22259_22260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+10_709+11del MANE Select	ENSP00000308024.2:n.709+10_709+11del
ENST00000311106.7:c.709+10_709+11del	ENSP00000308024.2:n.709+10_709+11del
ENST00000508626.5:c.568+10_568+11del	ENSP00000421600.1:n.568+10_568+11del
NM_000439.4:c.709+10_709+11del	NP_000430.3:n.709+10_709+11del
NM_001177875.1:c.568+10_568+11del	NP_001171346.1:n.568+10_568+11del
NR_130776.1:n.354+36372_354+36373del
NM_000439.5:c.709+10_709+11del MANE Select	NP_000430.3:n.709+10_709+11del
NM_001177875.2:c.568+10_568+11del	NP_001171346.1:n.568+10_568+11del