Canonical Allele Identifier: CA1565411940
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415943_96415944delinsTA , CM000667.2:g.96415943_96415944delinsTA GRCh38
NC_000005.9:g.95751647_95751648delinsTA , CM000667.1:g.95751647_95751648delinsTA GRCh37
NC_000005.8:g.95777403_95777404delinsTA NCBI36
NG_021161.1:g.22338_22339delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+89_709+90delinsTA MANE Select ENSP00000308024.2:n.709+89_709+90delinsTA
ENST00000311106.7:c.709+89_709+90delinsTA ENSP00000308024.2:n.709+89_709+90delinsTA
ENST00000508626.5:c.568+89_568+90delinsTA ENSP00000421600.1:n.568+89_568+90delinsTA
NM_000439.4:c.709+89_709+90delinsTA NP_000430.3:n.709+89_709+90delinsTA
NM_001177875.1:c.568+89_568+90delinsTA NP_001171346.1:n.568+89_568+90delinsTA
NR_130776.1:n.354+36291_354+36292delinsTA
NM_000439.5:c.709+89_709+90delinsTA MANE Select NP_000430.3:n.709+89_709+90delinsTA
NM_001177875.2:c.568+89_568+90delinsTA NP_001171346.1:n.568+89_568+90delinsTA