Canonical Allele Identifier: CA124716390

Gene: EFNA5

Linked Data

• dbSNP Id: rs939516310
• gnomAD v3: 5-107646982-C-CT
• gnomAD v4: 5-107646982-C-CT
• MyVariant Identifiers: chr5:g.106982683_106982684insT (hg19) ; chr5:g.107646982_107646983insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646983dup , CM000667.2:g.107646983dup	GRCh38
NC_000005.9:g.106982684dup , CM000667.1:g.106982684dup	GRCh37
NC_000005.8:g.107010583dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333274.11:c.125+23506dup MANE Select	ENSP00000328777.6:n.125+23506dup
ENST00000333274.10:c.125+23506dup	ENSP00000328777.6:n.125+23506dup
ENST00000504941.1:n.397+23506dup
ENST00000509503.1:c.125+23506dup	ENSP00000426989.1:n.125+23506dup
NM_001962.2:c.125+23506dup	NP_001953.1:n.125+23506dup
XM_006714565.1:c.125+23506dup	XP_006714628.1:n.125+23506dup
XM_006714565.3:c.125+23506dup	XP_006714628.1:n.125+23506dup
NM_001962.3:c.125+23506dup MANE Select	NP_001953.1:n.125+23506dup