Canonical Allele Identifier: CA1565418167

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429444_96429445delinsTA , CM000667.2:g.96429444_96429445delinsTA	GRCh38
NC_000005.9:g.95765148_95765149delinsTA , CM000667.1:g.95765148_95765149delinsTA	GRCh37
NC_000005.8:g.95790904_95790905delinsTA	NCBI36
NG_021161.1:g.8837_8838delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-128_181-127delinsTA MANE Select	ENSP00000308024.2:n.181-128_181-127delinsTA
ENST00000311106.7:c.181-128_181-127delinsTA	ENSP00000308024.2:n.181-128_181-127delinsTA
ENST00000508626.5:c.40-128_40-127delinsTA	ENSP00000421600.1:n.40-128_40-127delinsTA
ENST00000509190.1:c.181-128_181-127delinsTA	ENSP00000427294.1:n.181-128_181-127delinsTA
NM_000439.4:c.181-128_181-127delinsTA	NP_000430.3:n.181-128_181-127delinsTA
NM_001177875.1:c.40-128_40-127delinsTA	NP_001171346.1:n.40-128_40-127delinsTA
NR_130776.1:n.354+49792_354+49793delinsTA
NM_000439.5:c.181-128_181-127delinsTA MANE Select	NP_000430.3:n.181-128_181-127delinsTA
NM_001177875.2:c.40-128_40-127delinsTA	NP_001171346.1:n.40-128_40-127delinsTA