Canonical Allele Identifier: CA604287220

Gene:

Linked Data

• dbSNP Id: rs1373704817
• gnomAD v2: 12-28198090-GTAATTTATTA-G
• gnomAD v3: 12-28045157-GTAATTTATTA-G
• gnomAD v4: 12-28045157-GTAATTTATTA-G
• MyVariant Identifiers: chr12:g.28198091_28198100del (hg19) ; chr12:g.28045158_28045167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045159_28045168del , CM000674.2:g.28045159_28045168del	GRCh38
NC_000012.11:g.28198092_28198101del , CM000674.1:g.28198092_28198101del	GRCh37
NC_000012.10:g.28089359_28089368del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6209_154-6200del