Canonical Allele Identifier: CA1079027957

Gene: PCSK1

Linked Data

• gnomAD v3: 5-96429109-T-TAA
• gnomAD v4: 5-96429109-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429118_96429119dup , CM000667.2:g.96429118_96429119dup	GRCh38
NC_000005.9:g.95764822_95764823dup , CM000667.1:g.95764822_95764823dup	GRCh37
NC_000005.8:g.95790578_95790579dup	NCBI36
NG_021161.1:g.9171_9172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+102_285+103dup MANE Select	ENSP00000308024.2:n.285+102_285+103dup
ENST00000311106.7:c.285+102_285+103dup	ENSP00000308024.2:n.285+102_285+103dup
ENST00000508626.5:c.144+102_144+103dup	ENSP00000421600.1:n.144+102_144+103dup
ENST00000509190.1:c.285+102_285+103dup	ENSP00000427294.1:n.285+102_285+103dup
NM_000439.4:c.285+102_285+103dup	NP_000430.3:n.285+102_285+103dup
NM_001177875.1:c.144+102_144+103dup	NP_001171346.1:n.144+102_144+103dup
NR_130776.1:n.354+49466_354+49467dup
NM_000439.5:c.285+102_285+103dup MANE Select	NP_000430.3:n.285+102_285+103dup
NM_001177875.2:c.144+102_144+103dup	NP_001171346.1:n.144+102_144+103dup