Canonical Allele Identifier: CA688740754

Gene:

Linked Data

• dbSNP Id: rs1400192407
• gnomAD v3: 12-40373584-AAC-A
• gnomAD v4: 12-40373584-AAC-A
• MyVariant Identifiers: chr12:g.40767387_40767388del (hg19) ; chr12:g.40373585_40373586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40373587_40373588del , CM000674.2:g.40373587_40373588del	GRCh38
NC_000012.11:g.40767389_40767390del , CM000674.1:g.40767389_40767390del	GRCh37
NC_000012.10:g.39053656_39053657del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944868.1:n.485-18759_485-18758del
XR_944869.1:n.485-1534_485-1533del
XR_001749087.1:n.380-1534_380-1533del
XR_001749088.1:n.347-1534_347-1533del
XR_944868.2:n.485-18759_485-18758del
XR_944869.2:n.485-1534_485-1533del