Canonical Allele Identifier: CA532354435

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1296025817
• gnomAD v2: 2-48034054-C-CAACATTATGATCTAAT
• gnomAD v3: 2-47806915-C-CAACATTATGATCTAAT
• gnomAD v4: 2-47806915-C-CAACATTATGATCTAAT
• MyVariant Identifiers: chr2:g.48034054_48034055insAACATTATGATCTAAT (hg19) ; chr2:g.47806915_47806916insAACATTATGATCTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806918_47806933dup , CM000664.2:g.47806918_47806933dup	GRCh38
NC_000002.11:g.48034057_48034072dup , CM000664.1:g.48034057_48034072dup	GRCh37
NC_000002.10:g.47887561_47887576dup	NCBI36
NG_007111.1:g.28772_28787dup , LRG_219:g.28772_28787dup
NG_008397.1:g.103745_103760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.*58_*73dup (MSH6)	ENSP00000406248.2:n.*58_*73dup
ENST00000420813.6:c.*58_*73dup (MSH6)	ENSP00000390382.2:n.*58_*73dup
ENST00000455383.6:c.*58_*73dup (MSH6)	ENSP00000397484.2:n.*58_*73dup
ENST00000682451.1:n.3817_3832dup (FBXO11)
ENST00000684712.1:n.4079_4094dup (FBXO11)
ENST00000234420.11:c.*58_*73dup (MSH6) MANE Select	ENSP00000234420.5:n.*58_*73dup
ENST00000540021.6:c.*58_*73dup (MSH6)	ENSP00000446475.1:n.*58_*73dup
ENST00000652107.1:c.*58_*73dup (MSH6)	ENSP00000498629.1:n.*58_*73dup
ENST00000234420.9:c.*58_*73dup (MSH6)	ENSP00000234420.4:n.*58_*73dup
ENST00000405808.5:c.169+1264_169+1279dup (FBXO11)	ENSP00000385127.1:n.169+1264_169+1279dup
ENST00000434234.5:c.*124+1063_*124+1078dup (FBXO11)	ENSP00000402692.1:n.*124+1063_*124+1078dup
ENST00000445503.5:c.*3488_*3503dup (MSH6)	ENSP00000405294.1:n.*3488_*3503dup
ENST00000465204.5:n.2979_2994dup (FBXO11)
ENST00000538136.1:c.*58_*73dup (MSH6)	ENSP00000438580.1:n.*58_*73dup
ENST00000540021.5:c.*58_*73dup (MSH6)	ENSP00000446475.1:n.*58_*73dup
ENST00000614496.4:c.*58_*73dup (MSH6)	ENSP00000477844.1:n.*58_*73dup
ENST00000622629.4:c.*58_*73dup (MSH6)	ENSP00000482078.1:n.*58_*73dup
NM_000179.2:c.*58_*73dup , LRG_219t1:c.*58_*73dup (MSH6)	NP_000170.1:n.*58_*73dup
NM_001281492.1:c.*58_*73dup (MSH6)	NP_001268421.1:n.*58_*73dup
NM_001281493.1:c.*58_*73dup (MSH6)	NP_001268422.1:n.*58_*73dup
NM_001281494.1:c.*58_*73dup (MSH6)	NP_001268423.1:n.*58_*73dup
XM_005264271.1:c.*58_*73dup (MSH6)	XP_005264328.1:n.*58_*73dup
XM_011532798.1:c.*58_*73dup (MSH6)	XP_011531100.1:n.*58_*73dup
XM_011532799.1:c.*58_*73dup (MSH6)	XP_011531101.1:n.*58_*73dup
XM_011532800.1:c.*58_*73dup (MSH6)	XP_011531102.1:n.*58_*73dup
XM_024452819.1:c.*58_*73dup (MSH6)	XP_024308587.1:n.*58_*73dup
XM_024452820.1:c.*58_*73dup (MSH6)	XP_024308588.1:n.*58_*73dup
XM_024452821.1:c.*58_*73dup (MSH6)	XP_024308589.1:n.*58_*73dup
XM_024452822.1:c.*58_*73dup (MSH6)	XP_024308590.1:n.*58_*73dup
NM_000179.3:c.*58_*73dup (MSH6) MANE Select	NP_000170.1:n.*58_*73dup
NM_001281492.2:c.*58_*73dup (MSH6)	NP_001268421.1:n.*58_*73dup
NM_001281493.2:c.*58_*73dup (MSH6)	NP_001268422.1:n.*58_*73dup
NM_001281494.2:c.*58_*73dup (MSH6)	NP_001268423.1:n.*58_*73dup