Canonical Allele Identifier: CA1110104622

Gene:

Linked Data

• dbSNP Id: rs1798572258
• gnomAD v3: 8-5907136-CTT-C
• gnomAD v4: 8-5907136-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907138_5907139del , CM000670.2:g.5907138_5907139del	GRCh38
NC_000008.10:g.5764660_5764661del , CM000670.1:g.5764660_5764661del	GRCh37
NC_000008.9:g.5752068_5752069del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7407_308-7406del
XR_941375.1:n.308-7407_308-7406del
XR_941376.1:n.406-7407_406-7406del
XR_941377.1:n.308-7407_308-7406del
XR_941378.1:n.216-7407_216-7406del
XR_001745765.1:n.308-7407_308-7406del
XR_001745766.1:n.406-7407_406-7406del
XR_001745767.1:n.216-7407_216-7406del
XR_001745768.1:n.308-7407_308-7406del
XR_941374.2:n.308-7407_308-7406del
XR_941375.2:n.308-7407_308-7406del