Canonical Allele Identifier: CA564088957

Gene:

Linked Data

• dbSNP Id: rs1207934357
• gnomAD v2: 5-159007816-TTCTA-T
• gnomAD v3: 5-159580808-TTCTA-T
• gnomAD v4: 5-159580808-TTCTA-T
• MyVariant Identifiers: chr5:g.159007817_159007820del (hg19) ; chr5:g.159580809_159580812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580812_159580815del , CM000667.2:g.159580812_159580815del	GRCh38
NC_000005.9:g.159007820_159007823del , CM000667.1:g.159007820_159007823del	GRCh37
NC_000005.8:g.158940398_158940401del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+377_2075+380del
XR_941140.1:n.2075+377_2075+380del
XR_941141.1:n.570+377_570+380del
XR_941139.2:n.2229+377_2229+380del