Canonical Allele Identifier: CA2578366388
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429321-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429325del , CM000667.2:g.96429325del GRCh38
NC_000005.9:g.95765029del , CM000667.1:g.95765029del GRCh37
NC_000005.8:g.95790785del NCBI36
NG_021161.1:g.8960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-5del MANE Select ENSP00000308024.2:n.181-5del
ENST00000311106.7:c.181-5del ENSP00000308024.2:n.181-5del
ENST00000508626.5:c.40-5del ENSP00000421600.1:n.40-5del
ENST00000509190.1:c.181-5del ENSP00000427294.1:n.181-5del
NM_000439.4:c.181-5del NP_000430.3:n.181-5del
NM_001177875.1:c.40-5del NP_001171346.1:n.40-5del
NR_130776.1:n.354+49673del
NM_000439.5:c.181-5del MANE Select NP_000430.3:n.181-5del
NM_001177875.2:c.40-5del NP_001171346.1:n.40-5del
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