Canonical Allele Identifier: CA1016994232

Gene: EFCAB8

Linked Data

• dbSNP Id: rs1983963696
• gnomAD v3: 20-32859003-CAG-C
• gnomAD v4: 20-32859003-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32859004_32859005del , CM000682.2:g.32859004_32859005del	GRCh38
NC_000020.10:g.31446810_31446811del , CM000682.1:g.31446810_31446811del	GRCh37
NC_000020.9:g.30910471_30910472del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400522.9:c.-13_-12del MANE Select	ENSP00000383366.5:n.-13_-12del
ENST00000400522.8:c.-13_-12del	ENSP00000383366.5:n.-13_-12del
NM_001143967.1:c.-13_-12del	NP_001137439.1:n.-13_-12del
XM_024451882.1:c.-13_-12del	XP_024307650.1:n.-13_-12del
XM_024451883.1:c.-13_-12del	XP_024307651.1:n.-13_-12del
XM_024451885.1:c.-13_-12del	XP_024307653.1:n.-13_-12del
NM_001143967.2:c.-13_-12del MANE Select	NP_001137439.1:n.-13_-12del