Canonical Allele Identifier: CA1133959737
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2080440862
gnomAD v3: X-68830125-C-CCCCT
gnomAD v4: X-68830125-C-CCCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68830126_68830129dup , CM000685.2:g.68830126_68830129dup GRCh38
NC_000023.10:g.68049969_68049972dup , CM000685.1:g.68049969_68049972dup GRCh37
NC_000023.9:g.67966694_67966697dup NCBI36
NG_008887.1:g.6130_6133dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+222_128+225dup MANE Select ENSP00000204961.4:n.128+222_128+225dup
ENST00000204961.4:c.128+222_128+225dup ENSP00000204961.4:n.128+222_128+225dup
NM_004429.4:c.128+222_128+225dup NP_004420.1:n.128+222_128+225dup
NM_004429.5:c.128+222_128+225dup MANE Select NP_004420.1:n.128+222_128+225dup
Search 100 bp 5'
Search 100 bp 3'