Canonical Allele Identifier: CA1565418235

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429561_96429564delinsGCCC , CM000667.2:g.96429561_96429564delinsGCCC	GRCh38
NC_000005.9:g.95765265_95765268delinsGCCC , CM000667.1:g.95765265_95765268delinsGCCC	GRCh37
NC_000005.8:g.95791021_95791024delinsGCCC	NCBI36
NG_021161.1:g.8718_8721delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-247_181-244delinsGGGC MANE Select	ENSP00000308024.2:n.181-247_181-244delinsGGGC
ENST00000311106.7:c.181-247_181-244delinsGGGC	ENSP00000308024.2:n.181-247_181-244delinsGGGC
ENST00000508626.5:c.40-247_40-244delinsGGGC	ENSP00000421600.1:n.40-247_40-244delinsGGGC
ENST00000509190.1:c.181-247_181-244delinsGGGC	ENSP00000427294.1:n.181-247_181-244delinsGGGC
NM_000439.4:c.181-247_181-244delinsGGGC	NP_000430.3:n.181-247_181-244delinsGGGC
NM_001177875.1:c.40-247_40-244delinsGGGC	NP_001171346.1:n.40-247_40-244delinsGGGC
NR_130776.1:n.354+49909_354+49912delinsGCCC
NM_000439.5:c.181-247_181-244delinsGGGC MANE Select	NP_000430.3:n.181-247_181-244delinsGGGC
NM_001177875.2:c.40-247_40-244delinsGGGC	NP_001171346.1:n.40-247_40-244delinsGGGC