Canonical Allele Identifier: CA10575631
Gene: GRHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 101517
ClinVar RCV Id: RCV000087750
dbSNP Id: rs879255243
MyVariant Identifiers: chr1:g.24673977_24673980del (hg19) chr1:g.24347487_24347490del (hg38)
PubMed: PMID:16160700 PMID:24360809
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24347487_24347490del , CM000663.2:g.24347487_24347490del GRCh38
NC_000001.10:g.24673977_24673980del , CM000663.1:g.24673977_24673980del GRCh37
NC_000001.9:g.24546564_24546567del NCBI36
NG_009308.1:g.33097_33100del
NG_009308.2:g.33097_33100del

Transcript Alleles

HGVS Amino-acid change
ENST00000524724.6:c.1425_1428del ENSP00000431290.2:p.Glu476LeufsTer10
ENST00000528064.6:c.1284_1287del ENSP00000435130.2:p.Glu429LeufsTer10
ENST00000689444.1:c.1425_1428del ENSP00000509040.1:p.Glu476LeufsTer10
ENST00000690803.1:c.1284_1287del ENSP00000510783.1:p.Glu429LeufsTer10
ENST00000692334.1:c.1284_1287del ENSP00000509790.1:p.Glu429LeufsTer10
ENST00000361548.9:c.1563_1566del MANE Select ENSP00000354943.5:p.Glu522LeufsTer10
ENST00000236255.4:c.1578_1581del ENSP00000236255.4:p.Glu527LeufsTer10
ENST00000350501.9:c.1563_1566del ENSP00000288955.5:p.Glu522LeufsTer10
ENST00000356046.6:c.1425_1428del ENSP00000348333.2:p.Glu476LeufsTer10
ENST00000361548.8:c.1563_1566del ENSP00000354943.4:p.Glu522LeufsTer10
ENST00000528064.5:c.*1232_*1235del ENSP00000435130.1:n.*1232_*1235del
NM_001195010.1:c.1425_1428del NP_001181939.1:p.Glu476LeufsTer10
NM_021180.3:c.1578_1581del NP_067003.2:p.Glu527LeufsTer10
NM_198173.2:c.1563_1566del NP_937816.1:p.Glu522LeufsTer10
NM_198174.2:c.1563_1566del NP_937817.3:p.Glu522LeufsTer10
XM_011541869.1:c.1425_1428del XP_011540171.1:p.Glu476LeufsTer10
XM_011541870.1:c.1284_1287del XP_011540172.1:p.Glu429LeufsTer10
XM_011541870.2:c.1284_1287del XP_011540172.1:p.Glu429LeufsTer10
NM_001195010.2:c.1425_1428del NP_001181939.1:p.Glu476LeufsTer10
NM_198173.3:c.1563_1566del MANE Select NP_937816.1:p.Glu522LeufsTer10
NM_198174.3:c.1563_1566del NP_937817.3:p.Glu522LeufsTer10
NM_021180.4:c.1578_1581del NP_067003.2:p.Glu527LeufsTer10
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