Canonical Allele Identifier: CA1079857886

Gene: EFNA5

Linked Data

• dbSNP Id: rs1750639344
• gnomAD v3: 5-107646712-G-GA
• gnomAD v4: 5-107646712-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646719dup , CM000667.2:g.107646719dup	GRCh38
NC_000005.9:g.106982420dup , CM000667.1:g.106982420dup	GRCh37
NC_000005.8:g.107010319dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333274.11:c.125+23776dup MANE Select	ENSP00000328777.6:n.125+23776dup
ENST00000333274.10:c.125+23776dup	ENSP00000328777.6:n.125+23776dup
ENST00000504941.1:n.397+23776dup
ENST00000509503.1:c.125+23776dup	ENSP00000426989.1:n.125+23776dup
NM_001962.2:c.125+23776dup	NP_001953.1:n.125+23776dup
XM_006714565.1:c.125+23776dup	XP_006714628.1:n.125+23776dup
XM_006714565.3:c.125+23776dup	XP_006714628.1:n.125+23776dup
NM_001962.3:c.125+23776dup MANE Select	NP_001953.1:n.125+23776dup