Canonical Allele Identifier: CA1078753669
Gene:

Linked Data

dbSNP Id: rs1744563175
gnomAD v3: 5-92222712-CTGCTG-C
gnomAD v4: 5-92222712-CTGCTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222725_92222729del , CM000667.2:g.92222725_92222729del GRCh38
NC_000005.9:g.91518542_91518546del , CM000667.1:g.91518542_91518546del GRCh37
NC_000005.8:g.91554298_91554302del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18041_394+18045del
Search 100 bp 5'
Search 100 bp 3'