Canonical Allele Identifier: CA185688678

Gene:

Linked Data

• dbSNP Id: rs144092088
• gnomAD v2: 8-128011837-TAA-T
• gnomAD v3: 8-126999592-TAA-T
• gnomAD v4: 8-126999592-TAA-T
• MyVariant Identifiers: chr8:g.128011838_128011839del (hg19) ; chr8:g.126999593_126999594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999594_126999595del , CM000670.2:g.126999594_126999595del	GRCh38
NC_000008.10:g.128011839_128011840del , CM000670.1:g.128011839_128011840del	GRCh37
NC_000008.9:g.128081021_128081022del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6961_1301-6960del