Canonical Allele Identifier: CA2674667198
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429215-G-GATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429223_96429225dup , CM000667.2:g.96429223_96429225dup GRCh38
NC_000005.9:g.95764927_95764929dup , CM000667.1:g.95764927_95764929dup GRCh37
NC_000005.8:g.95790683_95790685dup NCBI36
NG_021161.1:g.9064_9066dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.280_282dup MANE Select ENSP00000308024.2:p.Asp94_Arg95insAsp
ENST00000311106.7:c.280_282dup ENSP00000308024.2:p.Asp94_Arg95insAsp
ENST00000508626.5:c.139_141dup ENSP00000421600.1:p.Asp47_Arg48insAsp
ENST00000509190.1:c.280_282dup ENSP00000427294.1:p.Asp94_Arg95insAsp
NM_000439.4:c.280_282dup NP_000430.3:p.Asp94_Arg95insAsp
NM_001177875.1:c.139_141dup NP_001171346.1:p.Asp47_Arg48insAsp
NR_130776.1:n.354+49571_354+49573dup
NM_000439.5:c.280_282dup MANE Select NP_000430.3:p.Asp94_Arg95insAsp
NM_001177875.2:c.139_141dup NP_001171346.1:p.Asp47_Arg48insAsp
Search 100 bp 5'
Search 100 bp 3'