Canonical Allele Identifier: CA522076205

Gene:

Linked Data

• gnomAD v2: 1-34989250-CAGCCTCCTATCAGGCTGAAGAAGCCAAGACGTCTTCCAGGCAGGAAGCGTAGGTTGACAGCCATGAAAT-C
• gnomAD v3: 1-34523649-CAGCCTCCTATCAGGCTGAAGAAGCCAAGACGTCTTCCAGGCAGGAAGCGTAGGTTGACAGCCATGAAAT-C
• gnomAD v4: 1-34523649-CAGCCTCCTATCAGGCTGAAGAAGCCAAGACGTCTTCCAGGCAGGAAGCGTAGGTTGACAGCCATGAAAT-C
• MyVariant Identifiers: chr1:g.34989251_34989319del (hg19) ; chr1:g.34523650_34523718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523652_34523720del , CM000663.2:g.34523652_34523720del	GRCh38
NC_000001.10:g.34989253_34989321del , CM000663.1:g.34989253_34989321del	GRCh37
NC_000001.9:g.34761840_34761908del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947171.1:n.1073+23861_1073+23929del
XR_001737964.1:n.991+23861_991+23929del