Canonical Allele Identifier: CA982865269

Gene:

Linked Data

• gnomAD v3: 17-30237139-GTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGC-G
• gnomAD v4: 17-30237139-GTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237154_30237327del , CM000679.2:g.30237154_30237327del	GRCh38
NC_000017.10:g.28564172_28564345del , CM000679.1:g.28564172_28564345del	GRCh37
NC_000017.9:g.25588298_25588471del	NCBI36
NG_011747.2:g.3624_3797del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+84_165+257del
XR_001752824.1:n.280+84_280+257del