Canonical Allele Identifier: CA1565417987

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429056_96429057delinsTA , CM000667.2:g.96429056_96429057delinsTA	GRCh38
NC_000005.9:g.95764760_95764761delinsTA , CM000667.1:g.95764760_95764761delinsTA	GRCh37
NC_000005.8:g.95790516_95790517delinsTA	NCBI36
NG_021161.1:g.9225_9226delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+156_285+157delinsTA MANE Select	ENSP00000308024.2:n.285+156_285+157delinsTA
ENST00000311106.7:c.285+156_285+157delinsTA	ENSP00000308024.2:n.285+156_285+157delinsTA
ENST00000508626.5:c.144+156_144+157delinsTA	ENSP00000421600.1:n.144+156_144+157delinsTA
ENST00000509190.1:c.285+156_285+157delinsTA	ENSP00000427294.1:n.285+156_285+157delinsTA
NM_000439.4:c.285+156_285+157delinsTA	NP_000430.3:n.285+156_285+157delinsTA
NM_001177875.1:c.144+156_144+157delinsTA	NP_001171346.1:n.144+156_144+157delinsTA
NR_130776.1:n.354+49404_354+49405delinsTA
NM_000439.5:c.285+156_285+157delinsTA MANE Select	NP_000430.3:n.285+156_285+157delinsTA
NM_001177875.2:c.144+156_144+157delinsTA	NP_001171346.1:n.144+156_144+157delinsTA