Canonical Allele Identifier: CA2435560552
Gene: EFNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829642_68829667delinsGGGAGCACTTCAAGGCCGGCGGCTGC , CM000685.2:g.68829642_68829667delinsGGGAGCACTTCAAGGCCGGCGGCTGC GRCh38
NC_000023.10:g.68049485_68049510delinsGGGAGCACTTCAAGGCCGGCGGCTGC , CM000685.1:g.68049485_68049510delinsGGGAGCACTTCAAGGCCGGCGGCTGC GRCh37
NC_000023.9:g.67966210_67966235delinsGGGAGCACTTCAAGGCCGGCGGCTGC NCBI36
NG_008887.1:g.5646_5671delinsGGGAGCACTTCAAGGCCGGCGGCTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC MANE Select ENSP00000204961.4:n.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC...
ENST00000204961.4:c.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC ENSP00000204961.4:n.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC...
NM_004429.4:c.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC NP_004420.1:n.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC
NM_004429.5:c.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC MANE Select NP_004420.1:n.-135_-110delinsGGGAGCACTTCAAGGCCGGCGGCTGC