Canonical Allele Identifier: CA928817801
Gene:

Linked Data

dbSNP Id: rs1839459371
gnomAD v3: 10-57812540-ACTAGGGGATAAATTAAATTGAAAGAAGTAAACAATAATCCAGCCCATACTCCCTAAATCATCAGCAGCTCATCTTAGAAATGTTTTGCAGACTAGATGTGGAATGGGTCATCGGAGGGAAAACAGATCAATCTTCCCCTGTGATTTGGAG-A
gnomAD v4: 10-57812540-ACTAGGGGATAAATTAAATTGAAAGAAGTAAACAATAATCCAGCCCATACTCCCTAAATCATCAGCAGCTCATCTTAGAAATGTTTTGCAGACTAGATGTGGAATGGGTCATCGGAGGGAAAACAGATCAATCTTCCCCTGTGATTTGGAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812542_57812691del , CM000672.2:g.57812542_57812691del GRCh38
NC_000010.10:g.59572302_59572451del , CM000672.1:g.59572302_59572451del GRCh37
NC_000010.9:g.59242308_59242457del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945979.1:n.68+34602_68+34751del
XR_001747454.1:n.85+34602_85+34751del
Search 100 bp 5'
Search 100 bp 3'