Canonical Allele Identifier: CA815906942
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95727965_95727966insAAG (hg19) chr5:g.96392261_96392262insAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392262_96392263insAGA , CM000667.2:g.96392262_96392263insAGA GRCh38
NC_000005.9:g.95727966_95727967insAGA , CM000667.1:g.95727966_95727967insAGA GRCh37
NC_000005.8:g.95753722_95753723insAGA NCBI36
NG_021161.1:g.46020_46021insCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*739_*740insCTT MANE Select ENSP00000308024.2:n.*739_*740insCTT
ENST00000311106.7:c.*739_*740insCTT ENSP00000308024.2:n.*739_*740insCTT
NM_000439.4:c.*739_*740insCTT NP_000430.3:n.*739_*740insCTT
NM_001177875.1:c.*739_*740insCTT NP_001171346.1:n.*739_*740insCTT
NR_130776.1:n.354+12610_354+12611insAGA
NM_000439.5:c.*739_*740insCTT MANE Select NP_000430.3:n.*739_*740insCTT
NM_001177875.2:c.*739_*740insCTT NP_001171346.1:n.*739_*740insCTT
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