Canonical Allele Identifier: CA2497029638
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392174_96392175delinsGT , CM000667.2:g.96392174_96392175delinsGT GRCh38
NC_000005.9:g.95727878_95727879delinsGT , CM000667.1:g.95727878_95727879delinsGT GRCh37
NC_000005.8:g.95753634_95753635delinsGT NCBI36
NG_021161.1:g.46107_46108delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*826_*827delinsAC MANE Select ENSP00000308024.2:n.*826_*827delinsAC
ENST00000311106.7:c.*826_*827delinsAC ENSP00000308024.2:n.*826_*827delinsAC
NM_000439.4:c.*826_*827delinsAC NP_000430.3:n.*826_*827delinsAC
NM_001177875.1:c.*826_*827delinsAC NP_001171346.1:n.*826_*827delinsAC
NR_130776.1:n.354+12522_354+12523delinsGT
NM_000439.5:c.*826_*827delinsAC MANE Select NP_000430.3:n.*826_*827delinsAC
NM_001177875.2:c.*826_*827delinsAC NP_001171346.1:n.*826_*827delinsAC