Canonical Allele Identifier: CA971148239
Gene:

Linked Data

dbSNP Id: rs1895831901
gnomAD v3: 15-69755740-CAG-C
gnomAD v4: 15-69755740-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.69755743_69755744del , CM000677.2:g.69755743_69755744del GRCh38
NC_000015.9:g.70048082_70048083del , CM000677.1:g.70048082_70048083del GRCh37
NC_000015.8:g.67835136_67835137del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751592.2:n.86-413_86-412del
Search 100 bp 5'
Search 100 bp 3'