Canonical Allele Identifier: CA10603735
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280643
ClinVar RCV Id: RCV000340660
dbSNP Id: rs886041811
MyVariant Identifiers: chrX:g.68049704dupG (hg19) chrX:g.68829861dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829861dup , CM000685.2:g.68829861dup GRCh38
NC_000023.10:g.68049704dup , CM000685.1:g.68049704dup GRCh37
NC_000023.9:g.67966429dup NCBI36
NG_008887.1:g.5865dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.85dup MANE Select ENSP00000204961.4:p.Ala29GlyfsTer?
ENST00000204961.4:c.85dup ENSP00000204961.4:p.Ala29GlyfsTer?
NM_004429.4:c.85dup NP_004420.1:p.Ala29GlyfsTer?
NM_004429.5:c.85dup MANE Select NP_004420.1:p.Ala29GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'