Canonical Allele Identifier: CA122935637
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs139711271
gnomAD v2: 5-95764813-TA-T
gnomAD v3: 5-96429109-TA-T
gnomAD v4: 5-96429109-TA-T
MyVariant Identifiers: chr5:g.95764814del (hg19) chr5:g.96429110del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429119del , CM000667.2:g.96429119del GRCh38
NC_000005.9:g.95764823del , CM000667.1:g.95764823del GRCh37
NC_000005.8:g.95790579del NCBI36
NG_021161.1:g.9172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+103del MANE Select ENSP00000308024.2:n.285+103del
ENST00000311106.7:c.285+103del ENSP00000308024.2:n.285+103del
ENST00000508626.5:c.144+103del ENSP00000421600.1:n.144+103del
ENST00000509190.1:c.285+103del ENSP00000427294.1:n.285+103del
NM_000439.4:c.285+103del NP_000430.3:n.285+103del
NM_001177875.1:c.144+103del NP_001171346.1:n.144+103del
NR_130776.1:n.354+49467del
NM_000439.5:c.285+103del MANE Select NP_000430.3:n.285+103del
NM_001177875.2:c.144+103del NP_001171346.1:n.144+103del
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