Canonical Allele Identifier: CA561285011

Gene: PCSK1

Linked Data

• dbSNP Id: rs1203848995
• gnomAD v2: 5-95764905-TACA-T
• gnomAD v4: 5-96429201-TACA-T
• MyVariant Identifiers: chr5:g.95764906_95764908del (hg19) ; chr5:g.96429202_96429204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429205_96429207del , CM000667.2:g.96429205_96429207del	GRCh38
NC_000005.9:g.95764909_95764911del , CM000667.1:g.95764909_95764911del	GRCh37
NC_000005.8:g.95790665_95790667del	NCBI36
NG_021161.1:g.9078_9080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+9_285+11del MANE Select	ENSP00000308024.2:n.285+9_285+11del
ENST00000311106.7:c.285+9_285+11del	ENSP00000308024.2:n.285+9_285+11del
ENST00000508626.5:c.144+9_144+11del	ENSP00000421600.1:n.144+9_144+11del
ENST00000509190.1:c.285+9_285+11del	ENSP00000427294.1:n.285+9_285+11del
NM_000439.4:c.285+9_285+11del	NP_000430.3:n.285+9_285+11del
NM_001177875.1:c.144+9_144+11del	NP_001171346.1:n.144+9_144+11del
NR_130776.1:n.354+49553_354+49555del
NM_000439.5:c.285+9_285+11del MANE Select	NP_000430.3:n.285+9_285+11del
NM_001177875.2:c.144+9_144+11del	NP_001171346.1:n.144+9_144+11del