Canonical Allele Identifier: CA2674667264
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429437-AAATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429441_96429444del , CM000667.2:g.96429441_96429444del GRCh38
NC_000005.9:g.95765145_95765148del , CM000667.1:g.95765145_95765148del GRCh37
NC_000005.8:g.95790901_95790904del NCBI36
NG_021161.1:g.8841_8844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-124_181-121del MANE Select ENSP00000308024.2:n.181-124_181-121del
ENST00000311106.7:c.181-124_181-121del ENSP00000308024.2:n.181-124_181-121del
ENST00000508626.5:c.40-124_40-121del ENSP00000421600.1:n.40-124_40-121del
ENST00000509190.1:c.181-124_181-121del ENSP00000427294.1:n.181-124_181-121del
NM_000439.4:c.181-124_181-121del NP_000430.3:n.181-124_181-121del
NM_001177875.1:c.40-124_40-121del NP_001171346.1:n.40-124_40-121del
NR_130776.1:n.354+49789_354+49792del
NM_000439.5:c.181-124_181-121del MANE Select NP_000430.3:n.181-124_181-121del
NM_001177875.2:c.40-124_40-121del NP_001171346.1:n.40-124_40-121del
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