Canonical Allele Identifier: CA1110104946

Gene:

Linked Data

• dbSNP Id: rs1798582865
• gnomAD v3: 8-5907571-CGGAGGGA-C
• gnomAD v4: 8-5907571-CGGAGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907575_5907581del , CM000670.2:g.5907575_5907581del	GRCh38
NC_000008.10:g.5765097_5765103del , CM000670.1:g.5765097_5765103del	GRCh37
NC_000008.9:g.5752505_5752511del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7847_308-7841del
XR_941375.1:n.308-7847_308-7841del
XR_941376.1:n.406-7847_406-7841del
XR_941377.1:n.308-7847_308-7841del
XR_941378.1:n.216-7847_216-7841del
XR_001745765.1:n.308-7847_308-7841del
XR_001745766.1:n.406-7847_406-7841del
XR_001745767.1:n.216-7847_216-7841del
XR_001745768.1:n.308-7847_308-7841del
XR_941374.2:n.308-7847_308-7841del
XR_941375.2:n.308-7847_308-7841del