Canonical Allele Identifier: CA801547366

Gene: EFNA5

Linked Data

• dbSNP Id: rs1247637011
• gnomAD v3: 5-107646707-CT-C
• gnomAD v4: 5-107646707-CT-C
• MyVariant Identifiers: chr5:g.106982409del (hg19) ; chr5:g.107646708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646709del , CM000667.2:g.107646709del	GRCh38
NC_000005.9:g.106982410del , CM000667.1:g.106982410del	GRCh37
NC_000005.8:g.107010309del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333274.11:c.125+23781del MANE Select	ENSP00000328777.6:n.125+23781del
ENST00000333274.10:c.125+23781del	ENSP00000328777.6:n.125+23781del
ENST00000504941.1:n.397+23781del
ENST00000509503.1:c.125+23781del	ENSP00000426989.1:n.125+23781del
NM_001962.2:c.125+23781del	NP_001953.1:n.125+23781del
XM_006714565.1:c.125+23781del	XP_006714628.1:n.125+23781del
XM_006714565.3:c.125+23781del	XP_006714628.1:n.125+23781del
NM_001962.3:c.125+23781del MANE Select	NP_001953.1:n.125+23781del