Canonical Allele Identifier: CA242665970

Gene:

Linked Data

• dbSNP Id: rs72072572
• gnomAD v2: 12-102895078-C-CTCAA
• gnomAD v3: 12-102501300-C-CTCAA
• gnomAD v4: 12-102501300-C-CTCAA
• MyVariant Identifiers: chr12:g.102895090_102895091insTCAA (hg19) ; chr12:g.102895078_102895079insTCAA (hg19) ; chr12:g.102501312_102501313insTCAA (hg38) ; chr12:g.102501300_102501301insTCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501326_102501329dup , CM000674.2:g.102501326_102501329dup	GRCh38
NC_000012.11:g.102895104_102895107dup , CM000674.1:g.102895104_102895107dup	GRCh37
NC_000012.10:g.101419234_101419237dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17438_1952+17441dup