Canonical Allele Identifier: CA1085752599

Gene:

Linked Data

• dbSNP Id: rs1759189881
• gnomAD v3: 6-8169421-GAA-G
• gnomAD v4: 6-8169421-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169424_8169425del , CM000668.2:g.8169424_8169425del	GRCh38
NC_000006.11:g.8169657_8169658del , CM000668.1:g.8169657_8169658del	GRCh37
NC_000006.10:g.8114656_8114657del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11164_82+11165del
XR_926441.1:n.189+1504_189+1505del
XR_926442.1:n.82+11164_82+11165del
XR_926443.1:n.82+11164_82+11165del
XR_001743950.1:n.179+1504_179+1505del
XR_926440.2:n.74+11164_74+11165del
XR_926441.2:n.179+1504_179+1505del
XR_926443.2:n.83+11164_83+11165del