Canonical Allele Identifier: CA10581351
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235545
ClinVar RCV Id: RCV000224501
dbSNP Id: rs879255545
MyVariant Identifiers: chrX:g.68049711_68049712insCCTGGAGCCCGTAT (hg19) chrX:g.68829868_68829869insCCTGGAGCCCGTAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829877_68829890dup , CM000685.2:g.68829877_68829890dup GRCh38
NC_000023.10:g.68049720_68049733dup , CM000685.1:g.68049720_68049733dup GRCh37
NC_000023.9:g.67966445_67966458dup NCBI36
NG_008887.1:g.5881_5894dup

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.101_114dup MANE Select ENSP00000204961.4:p.Ser39ProfsTer12
ENST00000204961.4:c.101_114dup ENSP00000204961.4:p.Ser39ProfsTer12
NM_004429.4:c.101_114dup NP_004420.1:p.Ser39ProfsTer12
NM_004429.5:c.101_114dup MANE Select NP_004420.1:p.Ser39ProfsTer12
Search 100 bp 5'
Search 100 bp 3'