Canonical Allele Identifier: CA2674665224

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399113-A-AGTCAAGATTGATGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399113_96399114insGTCAAGATTGATGC , CM000667.2:g.96399113_96399114insGTCAAGATTGATGC	GRCh38
NC_000005.9:g.95734817_95734818insGTCAAGATTGATGC , CM000667.1:g.95734817_95734818insGTCAAGATTGATGC	GRCh37
NC_000005.8:g.95760573_95760574insGTCAAGATTGATGC	NCBI36
NG_021161.1:g.39168_39169insGCATCAATCTTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-78_1431-77insGCATCAATCTTGAC MANE Select	ENSP00000308024.2:n.1431-78_1431-77insGCATCAATCTTGAC
ENST00000311106.7:c.1431-78_1431-77insGCATCAATCTTGAC	ENSP00000308024.2:n.1431-78_1431-77insGCATCAATCTTGAC
ENST00000508626.5:c.1290-78_1290-77insGCATCAATCTTGAC	ENSP00000421600.1:n.1290-78_1290-77insGCATCAATCTTGAC
ENST00000513085.1:n.574-78_574-77insGCATCAATCTTGAC
NM_000439.4:c.1431-78_1431-77insGCATCAATCTTGAC	NP_000430.3:n.1431-78_1431-77insGCATCAATCTTGAC
NM_001177875.1:c.1290-78_1290-77insGCATCAATCTTGAC	NP_001171346.1:n.1290-78_1290-77insGCATCAATCTTGAC
NR_130776.1:n.354+19461_354+19462insGTCAAGATTGATGC
NM_000439.5:c.1431-78_1431-77insGCATCAATCTTGAC MANE Select	NP_000430.3:n.1431-78_1431-77insGCATCAATCTTGAC
NM_001177875.2:c.1290-78_1290-77insGCATCAATCTTGAC	NP_001171346.1:n.1290-78_1290-77insGCATCAATCTTGAC