Canonical Allele Identifier: CA2738733766

Gene: EFNB1

Linked Data

• dbSNP Id: rs2147973180

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829906_68829907insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG , CM000685.2:g.68829906_68829907insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG	GRCh38
NC_000023.10:g.68049749_68049750insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG , CM000685.1:g.68049749_68049750insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG	GRCh37
NC_000023.9:g.67966474_67966475insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG	NCBI36
NG_008887.1:g.5910_5911insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG MANE Select	ENSP00000204961.4:n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCT...
ENST00000204961.4:c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG	ENSP00000204961.4:n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCT...
NM_004429.4:c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG	NP_004420.1:n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGA...
NM_004429.5:c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG MANE Select	NP_004420.1:n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGA...