Canonical Allele Identifier: CA884317157

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1250267756
• gnomAD v3: 19-8404496-CCT-C
• gnomAD v4: 19-8404496-CCT-C
• MyVariant Identifiers: chr19:g.8469381_8469382del (hg19) ; chr19:g.8404497_8404498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404500_8404501del , CM000681.2:g.8404500_8404501del	GRCh38
NC_000019.9:g.8469384_8469385del , CM000681.1:g.8469384_8469385del	GRCh37
NC_000019.8:g.8375384_8375385del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40508_-88+40509del	ENSP00000264073.6:n.-88+40508_-88+40509del