Canonical Allele Identifier: CA8982559

Gene: PIGN

Linked Data

• ClinVar Variation Id: 264637
• ClinVar RCV Id: RCV000242057 ; RCV000609184 ; RCV000727335 ; RCV002347968
• dbSNP Id: rs779636222
• ExAC: 18:59821771 CACAAACCT / C
• gnomAD v2: 18-59821771-CACAAACCT-C
• gnomAD v3: 18-62154538-CACAAACCT-C
• gnomAD v4: 18-62154538-CACAAACCT-C
• MyVariant Identifiers: chr18:g.59821772_59821779del (hg19) ; chr18:g.62154539_62154546del (hg38)
• PubMed: PMID:26394714

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62154539_62154546del , CM000680.2:g.62154539_62154546del	GRCh38
NC_000018.9:g.59821772_59821779del , CM000680.1:g.59821772_59821779del	GRCh37
NC_000018.8:g.57972752_57972759del	NCBI36
NG_033144.1:g.37511_37518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357637.10:c.548_549+6del
ENST00000585344.6:c.548_549+6del
ENST00000585458.2:c.548_555del	ENSP00000466883.2:p.Lys183SerfsTer3
ENST00000586566.2:c.548_549+6del
ENST00000588571.6:c.548_549+6del
ENST00000589339.6:c.548_549+6del
ENST00000589414.6:n.11_12+6del
ENST00000589720.6:c.548_555del	ENSP00000468721.2:p.Lys183SerfsTer3
ENST00000591238.6:c.548_549+6del
ENST00000592803.2:c.311_312+6del
ENST00000638167.1:c.548_549+6del
ENST00000638183.1:c.548_549+6del
ENST00000638329.1:c.548_549+6del
ENST00000638369.1:c.548_549+6del
ENST00000638424.1:c.548_549+6del
ENST00000638435.1:c.317_318+6del
ENST00000638591.1:c.548_549+6del
ENST00000638858.1:n.527_528+6del
ENST00000638904.1:c.548_549+6del
ENST00000638936.1:c.548_549+6del
ENST00000638977.1:c.548_549+6del
ENST00000639174.1:c.548_549+6del
ENST00000639214.1:n.789_790+6del
ENST00000639342.1:c.442+2583_442+2590del	ENSP00000491022.1:n.442+2583_442+2590del
ENST00000639600.1:c.78_79+6del
ENST00000639681.1:c.548_549+6del
ENST00000639758.1:c.548_549+6del
ENST00000639902.1:c.548_549+6del
ENST00000639912.1:c.548_549+6del
ENST00000640050.1:c.548_549+6del
ENST00000640145.1:c.548_549+6del
ENST00000640170.1:c.548_549+6del
ENST00000640252.2:c.548_549+6del
ENST00000640268.1:c.548_549+6del
ENST00000640540.1:c.548_549+6del
ENST00000640593.1:c.548_549+6del
ENST00000640876.1:c.548_549+6del
ENST00000357637.9:c.548_549+6del
ENST00000400334.7:c.548_549+6del
ENST00000585923.5:c.548_549+6del
ENST00000588748.5:c.317_318+6del
ENST00000589098.5:c.263_270del	ENSP00000467618.1:p.Lys88SerfsTer3
ENST00000589720.5:c.548_549+6del
ENST00000591238.5:c.317_318+6del
ENST00000592803.1:c.27_28+6del
NM_012327.5:c.548_549+6del
NM_176787.4:c.548_549+6del
XM_011525889.1:c.548_549+6del
XM_011525890.1:c.548_549+6del
XM_011525891.1:c.548_549+6del
XM_011525892.1:c.548_549+6del
XM_011525893.1:c.548_549+6del
XM_011525894.1:c.548_549+6del
XM_011525895.1:c.548_549+6del
XM_011525896.1:c.548_549+6del
XM_011525897.1:c.548_549+6del
XM_011525898.1:c.548_549+6del
XM_017025685.1:c.548_549+6del
XM_017025686.1:c.548_549+6del
NM_176787.5:c.548_549+6del
NM_012327.6:c.548_549+6del