Canonical Allele Identifier: CA532705577

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 631106
• ClinVar RCV Id: RCV000777154
• dbSNP Id: rs1558395369
• gnomAD v2: 2-48033906-T-TTAA
• gnomAD v4: 2-47806767-T-TTAA
• MyVariant Identifiers: chr2:g.48033908_48033909delinsAATTA (hg19) ; chr2:g.47806769_47806770delinsAATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806768_47806769insAAT , CM000664.2:g.47806768_47806769insAAT	GRCh38
NC_000002.11:g.48033907_48033908insAAT , CM000664.1:g.48033907_48033908insAAT	GRCh37
NC_000002.10:g.47887411_47887412insAAT	NCBI36
NG_007111.1:g.28622_28623insAAT , LRG_219:g.28622_28623insAAT
NG_008397.1:g.103908_103909insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3705-11_3705-10insAAT (MSH6)	ENSP00000406248.2:n.3705-11_3705-10insAAT
ENST00000420813.6:c.3705-11_3705-10insAAT (MSH6)	ENSP00000390382.2:n.3705-11_3705-10insAAT
ENST00000455383.6:c.3705-11_3705-10insAAT (MSH6)	ENSP00000397484.2:n.3705-11_3705-10insAAT
ENST00000700004.2:c.3618-11_3618-10insAAT (MSH6)	ENSP00000514752.2:n.3618-11_3618-10insAAT
ENST00000699999.1:n.4676-11_4676-10insAAT (MSH6)
ENST00000700000.1:c.2436-11_2436-10insAAT (MSH6)	ENSP00000514749.1:n.2436-11_2436-10insAAT
ENST00000700002.1:c.4008-11_4008-10insAAT (MSH6)	ENSP00000514750.1:n.4008-11_4008-10insAAT
ENST00000700003.1:c.1457-11_1457-10insAAT (MSH6)	ENSP00000514751.1:n.1457-11_1457-10insAAT
ENST00000700004.1:c.2775-11_2775-10insAAT (MSH6)	ENSP00000514752.1:n.2775-11_2775-10insAAT
ENST00000700005.1:n.2969_2970insAAT (MSH6)
ENST00000700007.1:n.2597-11_2597-10insAAT (MSH6)
ENST00000700008.1:n.2264-11_2264-10insAAT (MSH6)
ENST00000700009.1:n.2666-11_2666-10insAAT (MSH6)
ENST00000700010.1:n.1411-11_1411-10insAAT (MSH6)
ENST00000700011.1:n.3296-11_3296-10insAAT (MSH6)
ENST00000682451.1:n.3980_3981insTTA (FBXO11)
ENST00000684712.1:n.4242_4243insTTA (FBXO11)
ENST00000234420.11:c.4002-11_4002-10insAAT (MSH6) MANE Select	ENSP00000234420.5:n.4002-11_4002-10insAAT
ENST00000540021.6:c.3612-11_3612-10insAAT (MSH6)	ENSP00000446475.1:n.3612-11_3612-10insAAT
ENST00000652107.1:c.3705-11_3705-10insAAT (MSH6)	ENSP00000498629.1:n.3705-11_3705-10insAAT
ENST00000673637.1:c.3705-11_3705-10insAAT (MSH6)	ENSP00000501310.1:n.3705-11_3705-10insAAT
ENST00000234420.9:c.4002-11_4002-10insAAT (MSH6)	ENSP00000234420.4:n.4002-11_4002-10insAAT
ENST00000405808.5:c.169+1427_169+1428insTTA (FBXO11)	ENSP00000385127.1:n.169+1427_169+1428insTTA
ENST00000434234.5:c.*124+1226_*124+1227insTTA (FBXO11)	ENSP00000402692.1:n.*124+1226_*124+1227insTTA
ENST00000445503.5:c.*3349-11_*3349-10insAAT (MSH6)	ENSP00000405294.1:n.*3349-11_*3349-10insAAT
ENST00000465204.5:n.3142_3143insTTA (FBXO11)
ENST00000538136.1:c.3096-11_3096-10insAAT (MSH6)	ENSP00000438580.1:n.3096-11_3096-10insAAT
ENST00000540021.5:c.3612-11_3612-10insAAT (MSH6)	ENSP00000446475.1:n.3612-11_3612-10insAAT
ENST00000614496.4:c.3096-11_3096-10insAAT (MSH6)	ENSP00000477844.1:n.3096-11_3096-10insAAT
ENST00000622629.4:c.903-11_903-10insAAT (MSH6)	ENSP00000482078.1:n.903-11_903-10insAAT
NM_000179.2:c.4002-11_4002-10insAAT , LRG_219t1:c.4002-11_4002-10insAAT (MSH6)	NP_000170.1:n.4002-11_4002-10insAAT
NM_001281492.1:c.3612-11_3612-10insAAT (MSH6)	NP_001268421.1:n.3612-11_3612-10insAAT
NM_001281493.1:c.3096-11_3096-10insAAT (MSH6)	NP_001268422.1:n.3096-11_3096-10insAAT
NM_001281494.1:c.3096-11_3096-10insAAT (MSH6)	NP_001268423.1:n.3096-11_3096-10insAAT
XM_005264271.1:c.3705-11_3705-10insAAT (MSH6)	XP_005264328.1:n.3705-11_3705-10insAAT
XM_011532798.1:c.3819-11_3819-10insAAT (MSH6)	XP_011531100.1:n.3819-11_3819-10insAAT
XM_011532799.1:c.3705-11_3705-10insAAT (MSH6)	XP_011531101.1:n.3705-11_3705-10insAAT
XM_011532800.1:c.3705-11_3705-10insAAT (MSH6)	XP_011531102.1:n.3705-11_3705-10insAAT
XM_024452819.1:c.4095-11_4095-10insAAT (MSH6)	XP_024308587.1:n.4095-11_4095-10insAAT
XM_024452820.1:c.3912-11_3912-10insAAT (MSH6)	XP_024308588.1:n.3912-11_3912-10insAAT
XM_024452821.1:c.3798-11_3798-10insAAT (MSH6)	XP_024308589.1:n.3798-11_3798-10insAAT
XM_024452822.1:c.3189-11_3189-10insAAT (MSH6)	XP_024308590.1:n.3189-11_3189-10insAAT
NM_000179.3:c.4002-11_4002-10insAAT (MSH6) MANE Select	NP_000170.1:n.4002-11_4002-10insAAT
NM_001281492.2:c.3612-11_3612-10insAAT (MSH6)	NP_001268421.1:n.3612-11_3612-10insAAT
NM_001281493.2:c.3096-11_3096-10insAAT (MSH6)	NP_001268422.1:n.3096-11_3096-10insAAT
NM_001281494.2:c.3096-11_3096-10insAAT (MSH6)	NP_001268423.1:n.3096-11_3096-10insAAT