Canonical Allele Identifier: CA1167985031

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059838_55059841delinsTCTC , CM000663.2:g.55059838_55059841delinsTCTC	GRCh38
NC_000001.10:g.55525511_55525514delinsTCTC , CM000663.1:g.55525511_55525514delinsTCTC	GRCh37
NC_000001.9:g.55298099_55298102delinsTCTC	NCBI36
NG_009061.1:g.25292_25295delinsTCTC , LRG_275:g.25292_25295delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+175_1681+178delinsTCTC	ENSP00000501161.2:n.1681+175_1681+178delinsTCTC
ENST00000710286.1:c.2038+175_2038+178delinsTCTC	ENSP00000518176.1:n.2038+175_2038+178delinsTCTC
ENST00000673903.1:c.1306+175_1306+178delinsTCTC	ENSP00000501257.1:n.1306+175_1306+178delinsTCTC
ENST00000673913.1:c.421+175_421+178delinsTCTC	ENSP00000501161.1:n.421+175_421+178delinsTCTC
ENST00000302118.5:c.1681+175_1681+178delinsTCTC MANE Select	ENSP00000303208.5:n.1681+175_1681+178delinsTCTC
ENST00000490692.1:n.2227+1191_2227+1194delinsTCTC
NM_174936.3:c.1681+175_1681+178delinsTCTC , LRG_275t1:c.1681+175_1681+178delinsTCTC	NP_777596.2:n.1681+175_1681+178delinsTCTC
NR_110451.1:n.1288+175_1288+178delinsTCTC
XM_011541193.1:c.802+175_802+178delinsTCTC	XP_011539495.1:n.802+175_802+178delinsTCTC
NM_174936.4:c.1681+175_1681+178delinsTCTC MANE Select	NP_777596.2:n.1681+175_1681+178delinsTCTC
NR_110451.2:n.1288+175_1288+178delinsTCTC