Canonical Allele Identifier: CA561285032

Gene: PCSK1

Linked Data

• dbSNP Id: rs1480841573
• gnomAD v2: 5-95765022-C-CTCTAGCTTATCTGCTTTCTT
• MyVariant Identifiers: chr5:g.95765022_95765023insTCTAGCTTATCTGCTTTCTT (hg19) ; chr5:g.96429318_96429319insTCTAGCTTATCTGCTTTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429319_96429320insCTAGCTTATCTGCTTTCTTT , CM000667.2:g.96429319_96429320insCTAGCTTATCTGCTTTCTTT	GRCh38
NC_000005.9:g.95765023_95765024insCTAGCTTATCTGCTTTCTTT , CM000667.1:g.95765023_95765024insCTAGCTTATCTGCTTTCTTT	GRCh37
NC_000005.8:g.95790779_95790780insCTAGCTTATCTGCTTTCTTT	NCBI36
NG_021161.1:g.8963_8964insAAGAAAGCAGATAAGCTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-2_181-1insAAGAAAGCAGATAAGCTAGA MANE Select	ENSP00000308024.2:n.181-2_181-1insAAGAAAGCAGATAAGCTAGA
ENST00000311106.7:c.181-2_181-1insAAGAAAGCAGATAAGCTAGA	ENSP00000308024.2:n.181-2_181-1insAAGAAAGCAGATAAGCTAGA
ENST00000508626.5:c.40-2_40-1insAAGAAAGCAGATAAGCTAGA	ENSP00000421600.1:n.40-2_40-1insAAGAAAGCAGATAAGCTAGA
ENST00000509190.1:c.181-2_181-1insAAGAAAGCAGATAAGCTAGA	ENSP00000427294.1:n.181-2_181-1insAAGAAAGCAGATAAGCTAGA
NM_000439.4:c.181-2_181-1insAAGAAAGCAGATAAGCTAGA	NP_000430.3:n.181-2_181-1insAAGAAAGCAGATAAGCTAGA
NM_001177875.1:c.40-2_40-1insAAGAAAGCAGATAAGCTAGA	NP_001171346.1:n.40-2_40-1insAAGAAAGCAGATAAGCTAGA
NR_130776.1:n.354+49667_354+49668insCTAGCTTATCTGCTTTCTTT
NM_000439.5:c.181-2_181-1insAAGAAAGCAGATAAGCTAGA MANE Select	NP_000430.3:n.181-2_181-1insAAGAAAGCAGATAAGCTAGA
NM_001177875.2:c.40-2_40-1insAAGAAAGCAGATAAGCTAGA	NP_001171346.1:n.40-2_40-1insAAGAAAGCAGATAAGCTAGA