Canonical Allele Identifier: CA625447400

Gene:

Linked Data

• gnomAD v2: 17-28564153-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTG-A
• gnomAD v3: 17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTG-A
• gnomAD v4: 17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTG-A
• MyVariant Identifiers: chr17:g.28564154_28564347del (hg19) ; chr17:g.30237136_30237329del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237156_30237349del , CM000679.2:g.30237156_30237349del	GRCh38
NC_000017.10:g.28564174_28564367del , CM000679.1:g.28564174_28564367del	GRCh37
NC_000017.9:g.25588300_25588493del	NCBI36
NG_011747.2:g.3608_3801del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+86_165+279del
XR_001752824.1:n.280+86_280+279del