Canonical Allele Identifier: CA982866172

Gene:

Linked Data

• gnomAD v3: 17-30237277-GGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGGAGGGCTGCAGTA-G
• gnomAD v4: 17-30237277-GGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGGAGGGCTGCAGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237282_30237456del , CM000679.2:g.30237282_30237456del	GRCh38
NC_000017.10:g.28564300_28564474del , CM000679.1:g.28564300_28564474del	GRCh37
NC_000017.9:g.25588426_25588600del	NCBI36
NG_011747.2:g.3485_3659del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+212_166-186del
XR_001752824.1:n.280+212_281-186del