Canonical Allele Identifier: CA993264521

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1971465144
• gnomAD v3: 19-8404454-CTTCT-C
• gnomAD v4: 19-8404454-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404461_8404464del , CM000681.2:g.8404461_8404464del	GRCh38
NC_000019.9:g.8469345_8469348del , CM000681.1:g.8469345_8469348del	GRCh37
NC_000019.8:g.8375345_8375348del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40548_-88+40551del	ENSP00000264073.6:n.-88+40548_-88+40551del