Canonical Allele Identifier: CA1565418142
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429392_96429396delinsAACTT , CM000667.2:g.96429392_96429396delinsAACTT GRCh38
NC_000005.9:g.95765096_95765100delinsAACTT , CM000667.1:g.95765096_95765100delinsAACTT GRCh37
NC_000005.8:g.95790852_95790856delinsAACTT NCBI36
NG_021161.1:g.8886_8890delinsAAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-79_181-75delinsAAGTT MANE Select ENSP00000308024.2:n.181-79_181-75delinsAAGTT
ENST00000311106.7:c.181-79_181-75delinsAAGTT ENSP00000308024.2:n.181-79_181-75delinsAAGTT
ENST00000508626.5:c.40-79_40-75delinsAAGTT ENSP00000421600.1:n.40-79_40-75delinsAAGTT
ENST00000509190.1:c.181-79_181-75delinsAAGTT ENSP00000427294.1:n.181-79_181-75delinsAAGTT
NM_000439.4:c.181-79_181-75delinsAAGTT NP_000430.3:n.181-79_181-75delinsAAGTT
NM_001177875.1:c.40-79_40-75delinsAAGTT NP_001171346.1:n.40-79_40-75delinsAAGTT
NR_130776.1:n.354+49740_354+49744delinsAACTT
NM_000439.5:c.181-79_181-75delinsAAGTT MANE Select NP_000430.3:n.181-79_181-75delinsAAGTT
NM_001177875.2:c.40-79_40-75delinsAAGTT NP_001171346.1:n.40-79_40-75delinsAAGTT