Canonical Allele Identifier: CA1079021924
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v3: 5-96415829-TAGGC-T
gnomAD v4: 5-96415829-TAGGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415830_96415833del , CM000667.2:g.96415830_96415833del GRCh38
NC_000005.9:g.95751534_95751537del , CM000667.1:g.95751534_95751537del GRCh37
NC_000005.8:g.95777290_95777293del NCBI36
NG_021161.1:g.22449_22452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+200_709+203del MANE Select ENSP00000308024.2:n.709+200_709+203del
ENST00000311106.7:c.709+200_709+203del ENSP00000308024.2:n.709+200_709+203del
ENST00000508626.5:c.568+200_568+203del ENSP00000421600.1:n.568+200_568+203del
NM_000439.4:c.709+200_709+203del NP_000430.3:n.709+200_709+203del
NM_001177875.1:c.568+200_568+203del NP_001171346.1:n.568+200_568+203del
NR_130776.1:n.354+36178_354+36181del
NM_000439.5:c.709+200_709+203del MANE Select NP_000430.3:n.709+200_709+203del
NM_001177875.2:c.568+200_568+203del NP_001171346.1:n.568+200_568+203del
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