Canonical Allele Identifier: CA769468190
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1340691067
gnomAD v3: 2-47783050-G-GGGGCGGGGCCTGGC
gnomAD v4: 2-47783050-G-GGGGCGGGGCCTGGC
MyVariant Identifiers: chr2:g.48010189_48010190insGGGCGGGGCCTGGC (hg19) chr2:g.47783050_47783051insGGGCGGGGCCTGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783052_47783065dup , CM000664.2:g.47783052_47783065dup GRCh38
NC_000002.11:g.48010191_48010204dup , CM000664.1:g.48010191_48010204dup GRCh37
NC_000002.10:g.47863695_47863708dup NCBI36
NG_007111.1:g.4906_4919dup , LRG_219:g.4906_4919dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7875_-37-7862dup ENSP00000498629.1:n.-37-7875_-37-7862dup
ENST00000606499.1:c.-37-7875_-37-7862dup ENSP00000475605.1:n.-37-7875_-37-7862dup
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