Canonical Allele Identifier: CA1565418028

Gene: PCSK1

Linked Data

• dbSNP Id: rs1761409758

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429123_96429124insTTTTTTTTTTTT , CM000667.2:g.96429123_96429124insTTTTTTTTTTTT	GRCh38
NC_000005.9:g.95764827_95764828insTTTTTTTTTTTT , CM000667.1:g.95764827_95764828insTTTTTTTTTTTT	GRCh37
NC_000005.8:g.95790583_95790584insTTTTTTTTTTTT	NCBI36
NG_021161.1:g.9158_9159insAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+89_285+90insAAAAAAAAAAAA MANE Select	ENSP00000308024.2:n.285+89_285+90insAAAAAAAAAAAA
ENST00000311106.7:c.285+89_285+90insAAAAAAAAAAAA	ENSP00000308024.2:n.285+89_285+90insAAAAAAAAAAAA
ENST00000508626.5:c.144+89_144+90insAAAAAAAAAAAA	ENSP00000421600.1:n.144+89_144+90insAAAAAAAAAAAA
ENST00000509190.1:c.285+89_285+90insAAAAAAAAAAAA	ENSP00000427294.1:n.285+89_285+90insAAAAAAAAAAAA
NM_000439.4:c.285+89_285+90insAAAAAAAAAAAA	NP_000430.3:n.285+89_285+90insAAAAAAAAAAAA
NM_001177875.1:c.144+89_144+90insAAAAAAAAAAAA	NP_001171346.1:n.144+89_144+90insAAAAAAAAAAAA
NR_130776.1:n.354+49471_354+49472insTTTTTTTTTTTT
NM_000439.5:c.285+89_285+90insAAAAAAAAAAAA MANE Select	NP_000430.3:n.285+89_285+90insAAAAAAAAAAAA
NM_001177875.2:c.144+89_144+90insAAAAAAAAAAAA	NP_001171346.1:n.144+89_144+90insAAAAAAAAAAAA