Canonical Allele Identifier: CA1139667617
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917767
ClinVar RCV Id: RCV001174989
dbSNP Id: rs2080471528
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839714_68839715dup , CM000685.2:g.68839714_68839715dup GRCh38
NC_000023.10:g.68059557_68059558dup , CM000685.1:g.68059557_68059558dup GRCh37
NC_000023.9:g.67976282_67976283dup NCBI36
NG_008887.1:g.15718_15719dup

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.457_458dup MANE Select ENSP00000204961.4:p.Arg154AlafsTer6
ENST00000204961.4:c.457_458dup ENSP00000204961.4:p.Arg154AlafsTer6
NM_004429.4:c.457_458dup NP_004420.1:p.Arg154AlafsTer6
NM_004429.5:c.457_458dup MANE Select NP_004420.1:p.Arg154AlafsTer6
Search 100 bp 5'
Search 100 bp 3'