Canonical Allele Identifier: CA2693969626

Gene: EFNB1

Linked Data

• gnomAD v4: X-68829913-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829914_68829915del , CM000685.2:g.68829914_68829915del	GRCh38
NC_000023.10:g.68049757_68049758del , CM000685.1:g.68049757_68049758del	GRCh37
NC_000023.9:g.67966482_67966483del	NCBI36
NG_008887.1:g.5918_5919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.128+10_128+11del MANE Select	ENSP00000204961.4:n.128+10_128+11del
ENST00000204961.4:c.128+10_128+11del	ENSP00000204961.4:n.128+10_128+11del
NM_004429.4:c.128+10_128+11del	NP_004420.1:n.128+10_128+11del
NM_004429.5:c.128+10_128+11del MANE Select	NP_004420.1:n.128+10_128+11del