Canonical Allele Identifier: CA526771948

Gene:

Linked Data

• dbSNP Id: rs1380996526
• gnomAD v2: 1-168618783-ACT-A
• gnomAD v3: 1-168649545-ACT-A
• gnomAD v4: 1-168649545-ACT-A
• MyVariant Identifiers: chr1:g.168618784_168618785del (hg19) ; chr1:g.168649546_168649547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649548_168649549del , CM000663.2:g.168649548_168649549del	GRCh38
NC_000001.10:g.168618786_168618787del , CM000663.1:g.168618786_168618787del	GRCh37
NC_000001.9:g.166885410_166885411del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8272_201-8271del
XR_922259.2:n.332-8272_332-8271del