Canonical Allele Identifier: CA13392994
Gene: ANKRD49 HGNC NCBI
MRE11 HGNC NCBI
COSMIC:
COSN15656329 (not active)
MyVariant.info:
GRCh38 chr11:g.94493959C>A
GRCh37 chr11:g.94227125C>A
gnomAD v2:
11:94227125 C / A
gnomAD v3:
11:94493959 C / A
gnomAD v4:
chr11-94493959-C-A
Joint Max Group AF 0.38621057 (AMR)
Genomes Max Group AF 0.38626063 (AMR)
Exomes Max Group AF 0.25489678 (NFE)
ClinVar RCV:
RCV001716768
ClinVar Variation:
1291079
dbSNP:
11020802
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94493959C>A , CM000673.2:g.94493959C>A GRCh38
NC_000011.9:g.94227125C>A , CM000673.1:g.94227125C>A GRCh37
NC_000011.8:g.93866773C>A NCBI36
NG_007261.1:g.4916G>T , LRG_85:g.4916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000544612.5:c.-167C>A (ANKRD49) ENSP00000440396.1:n.-167C>A
XM_011542837.1:c.-105-1053G>T (MRE11) XP_011541139.1:n.-105-1053G>T
XM_011542837.2:c.-105-1053G>T (MRE11) XP_011541139.1:n.-105-1053G>T
Search 100 bp 5'
Search 100 bp 3'