Canonical Allele Identifier: CA249841992

Gene:

Linked Data

• ClinVar Variation Id: 2443575
• ClinVar RCV Id: RCV003152182 ; RCV003410287 ; RCV003626812
• dbSNP Id: rs36230211
• gnomAD v2: 13-48877825-AGCCTCGCGGACGTGACGCCGCGG-A
• gnomAD v3: 13-48303689-AGCCTCGCGGACGTGACGCCGCGG-A
• gnomAD v4: 13-48303689-AGCCTCGCGGACGTGACGCCGCGG-A
• MyVariant Identifiers: chr13:g.48877826_48877848del (hg19) ; chr13:g.48303690_48303712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303692_48303714del , CM000675.2:g.48303692_48303714del	GRCh38
NC_000013.10:g.48877828_48877850del , CM000675.1:g.48877828_48877850del	GRCh37
NC_000013.9:g.47775829_47775851del	NCBI36
NG_009009.1:g.4946_4968del , LRG_517:g.4946_4968del