Canonical Allele Identifier: CA171706483

Gene:

Linked Data

• dbSNP Id: rs147104705
• gnomAD v2: 8-5765077-TGGAGGGAGGAAAGGAC-T
• gnomAD v3: 8-5907555-TGGAGGGAGGAAAGGAC-T
• gnomAD v4: 8-5907555-TGGAGGGAGGAAAGGAC-T
• MyVariant Identifiers: chr8:g.5765078_5765093del (hg19) ; chr8:g.5907556_5907571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907567_5907582del , CM000670.2:g.5907567_5907582del	GRCh38
NC_000008.10:g.5765089_5765104del , CM000670.1:g.5765089_5765104del	GRCh37
NC_000008.9:g.5752497_5752512del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7840_308-7825del
XR_941375.1:n.308-7840_308-7825del
XR_941376.1:n.406-7840_406-7825del
XR_941377.1:n.308-7840_308-7825del
XR_941378.1:n.216-7840_216-7825del
XR_001745765.1:n.308-7840_308-7825del
XR_001745766.1:n.406-7840_406-7825del
XR_001745767.1:n.216-7840_216-7825del
XR_001745768.1:n.308-7840_308-7825del
XR_941374.2:n.308-7840_308-7825del
XR_941375.2:n.308-7840_308-7825del