Canonical Allele Identifier: CA235365168
Gene:

Linked Data

dbSNP Id: rs767935351
gnomAD v2: 12-40767395-TGAA-T
gnomAD v3: 12-40373593-TGAA-T
gnomAD v4: 12-40373593-TGAA-T
MyVariant Identifiers: chr12:g.40767396_40767398del (hg19) chr12:g.40373594_40373596del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373599_40373601del , CM000674.2:g.40373599_40373601del GRCh38
NC_000012.11:g.40767401_40767403del , CM000674.1:g.40767401_40767403del GRCh37
NC_000012.10:g.39053668_39053670del NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18769_485-18767del
XR_944869.1:n.485-1544_485-1542del
XR_001749087.1:n.380-1544_380-1542del
XR_001749088.1:n.347-1544_347-1542del
XR_944868.2:n.485-18769_485-18767del
XR_944869.2:n.485-1544_485-1542del
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