Canonical Allele Identifier: CA801547437

Gene: EFNA5

Linked Data

• dbSNP Id: rs1444554751
• gnomAD v3: 5-107646961-CTG-C
• gnomAD v4: 5-107646961-CTG-C
• MyVariant Identifiers: chr5:g.106982663_106982664del (hg19) ; chr5:g.107646962_107646963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646963_107646964del , CM000667.2:g.107646963_107646964del	GRCh38
NC_000005.9:g.106982664_106982665del , CM000667.1:g.106982664_106982665del	GRCh37
NC_000005.8:g.107010563_107010564del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333274.11:c.125+23526_125+23527del MANE Select	ENSP00000328777.6:n.125+23526_125+23527del
ENST00000333274.10:c.125+23526_125+23527del	ENSP00000328777.6:n.125+23526_125+23527del
ENST00000504941.1:n.397+23526_397+23527del
ENST00000509503.1:c.125+23526_125+23527del	ENSP00000426989.1:n.125+23526_125+23527del
NM_001962.2:c.125+23526_125+23527del	NP_001953.1:n.125+23526_125+23527del
XM_006714565.1:c.125+23526_125+23527del	XP_006714628.1:n.125+23526_125+23527del
XM_006714565.3:c.125+23526_125+23527del	XP_006714628.1:n.125+23526_125+23527del
NM_001962.3:c.125+23526_125+23527del MANE Select	NP_001953.1:n.125+23526_125+23527del