Canonical Allele Identifier: CA561285026

Gene: PCSK1

Linked Data

• dbSNP Id: rs1561378694
• gnomAD v2: 5-95764968-CCTT-C
• MyVariant Identifiers: chr5:g.95764969_95764971del (hg19) ; chr5:g.96429265_96429267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429267_96429269del , CM000667.2:g.96429267_96429269del	GRCh38
NC_000005.9:g.95764971_95764973del , CM000667.1:g.95764971_95764973del	GRCh37
NC_000005.8:g.95790727_95790729del	NCBI36
NG_021161.1:g.9015_9017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.231_233del MANE Select	ENSP00000308024.2:p.Arg78del
ENST00000311106.7:c.231_233del	ENSP00000308024.2:p.Arg78del
ENST00000508626.5:c.90_92del	ENSP00000421600.1:p.Arg31del
ENST00000509190.1:c.231_233del	ENSP00000427294.1:p.Arg78del
NM_000439.4:c.231_233del	NP_000430.3:p.Arg78del
NM_001177875.1:c.90_92del	NP_001171346.1:p.Arg31del
NR_130776.1:n.354+49615_354+49617del
NM_000439.5:c.231_233del MANE Select	NP_000430.3:p.Arg78del
NM_001177875.2:c.90_92del	NP_001171346.1:p.Arg31del