Canonical Allele Identifier: CA828661861
Gene:

Linked Data

dbSNP Id: rs1439267383
gnomAD v3: 6-8169416-CG-C
gnomAD v4: 6-8169416-CG-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169418del , CM000668.2:g.8169418del GRCh38
NC_000006.11:g.8169651del , CM000668.1:g.8169651del GRCh37
NC_000006.10:g.8114650del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11158del
XR_926441.1:n.189+1498del
XR_926442.1:n.82+11158del
XR_926443.1:n.82+11158del
XR_001743950.1:n.179+1498del
XR_926440.2:n.74+11158del
XR_926441.2:n.179+1498del
XR_926443.2:n.83+11158del