Canonical Allele Identifier: CA235365169

Gene:

Linked Data

• dbSNP Id: rs750844468
• gnomAD v2: 12-40767403-AT-A
• gnomAD v3: 12-40373601-AT-A
• gnomAD v4: 12-40373601-AT-A
• MyVariant Identifiers: chr12:g.40767404del (hg19) ; chr12:g.40373602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40373606del , CM000674.2:g.40373606del	GRCh38
NC_000012.11:g.40767408del , CM000674.1:g.40767408del	GRCh37
NC_000012.10:g.39053675del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944868.1:n.485-18775del
XR_944869.1:n.485-1550del
XR_001749087.1:n.380-1550del
XR_001749088.1:n.347-1550del
XR_944868.2:n.485-18775del
XR_944869.2:n.485-1550del