Canonical Allele Identifier: CA884317118

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1251300782
• gnomAD v3: 19-8404457-CTT-C
• gnomAD v4: 19-8404457-CTT-C
• MyVariant Identifiers: chr19:g.8469342_8469343del (hg19) ; chr19:g.8404458_8404459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404459_8404460del , CM000681.2:g.8404459_8404460del	GRCh38
NC_000019.9:g.8469343_8469344del , CM000681.1:g.8469343_8469344del	GRCh37
NC_000019.8:g.8375343_8375344del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40547_-88+40548del	ENSP00000264073.6:n.-88+40547_-88+40548del