Canonical Allele Identifier: CA1565418088
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429264_96429267delinsCCTT , CM000667.2:g.96429264_96429267delinsCCTT GRCh38
NC_000005.9:g.95764968_95764971delinsCCTT , CM000667.1:g.95764968_95764971delinsCCTT GRCh37
NC_000005.8:g.95790724_95790727delinsCCTT NCBI36
NG_021161.1:g.9015_9018delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.231_234delinsAAGG MANE Select ENSP00000308024.2:p.Arg77=
ENST00000311106.7:c.231_234delinsAAGG ENSP00000308024.2:p.Arg77=
ENST00000508626.5:c.90_93delinsAAGG ENSP00000421600.1:p.Arg30=
ENST00000509190.1:c.231_234delinsAAGG ENSP00000427294.1:p.Arg77=
NM_000439.4:c.231_234delinsAAGG NP_000430.3:p.Arg77=
NM_001177875.1:c.90_93delinsAAGG NP_001171346.1:p.Arg30=
NR_130776.1:n.354+49612_354+49615delinsCCTT
NM_000439.5:c.231_234delinsAAGG MANE Select NP_000430.3:p.Arg77=
NM_001177875.2:c.90_93delinsAAGG NP_001171346.1:p.Arg30=