Canonical Allele Identifier: CA626052720

Gene:

Linked Data

• dbSNP Id: rs34156075
• gnomAD v2: 17-40582365-A-ATT
• gnomAD v3: 17-42430347-A-ATT
• gnomAD v4: 17-42430347-A-ATT
• MyVariant Identifiers: chr17:g.40582366_40582367insTT (hg19) ; chr17:g.40582365_40582366insTT (hg19) ; chr17:g.42430348_42430349insTT (hg38) ; chr17:g.42430347_42430348insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42430356_42430357dup , CM000679.2:g.42430356_42430357dup	GRCh38
NC_000017.10:g.40582374_40582375dup , CM000679.1:g.40582374_40582375dup	GRCh37
NC_000017.9:g.37835900_37835901dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934762.1:n.505+5294_505+5295dup
XR_934763.1:n.423+5294_423+5295dup
XR_934765.1:n.255+5294_255+5295dup
XR_001752890.2:n.326+5294_326+5295dup
XR_002958124.1:n.382-5910_382-5909dup
XR_934762.2:n.553+5294_553+5295dup
XR_934765.2:n.257+5294_257+5295dup