Canonical Allele Identifier: CA071288

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs761752936
• ExAC: 2:48032743 T / TTC
• gnomAD v2: 2-48032743-T-TTC
• gnomAD v4: 2-47805604-T-TTC
• MyVariant Identifiers: chr2:g.48032743_48032744insTC (hg19) ; chr2:g.47805604_47805605insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805605_47805606insCT , CM000664.2:g.47805605_47805606insCT	GRCh38
NC_000002.11:g.48032744_48032745insCT , CM000664.1:g.48032744_48032745insCT	GRCh37
NC_000002.10:g.47886248_47886249insCT	NCBI36
NG_007111.1:g.27459_27460insCT , LRG_219:g.27459_27460insCT
NG_008397.1:g.105071_105072insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3260-13_3260-12insCT (MSH6)	ENSP00000406248.2:n.3260-13_3260-12insCT
ENST00000420813.6:c.3260-13_3260-12insCT (MSH6)	ENSP00000390382.2:n.3260-13_3260-12insCT
ENST00000455383.6:c.3260-13_3260-12insCT (MSH6)	ENSP00000397484.2:n.3260-13_3260-12insCT
ENST00000700004.2:c.3173-13_3173-12insCT (MSH6)	ENSP00000514752.2:n.3173-13_3173-12insCT
ENST00000699999.1:n.4218_4219insCT (MSH6)
ENST00000700000.1:c.1991-13_1991-12insCT (MSH6)	ENSP00000514749.1:n.1991-13_1991-12insCT
ENST00000700002.1:c.3563-13_3563-12insCT (MSH6)	ENSP00000514750.1:n.3563-13_3563-12insCT
ENST00000700003.1:c.1012-13_1012-12insCT (MSH6)	ENSP00000514751.1:n.1012-13_1012-12insCT
ENST00000700004.1:c.2330-13_2330-12insCT (MSH6)	ENSP00000514752.1:n.2330-13_2330-12insCT
ENST00000700005.1:n.2408-13_2408-12insCT (MSH6)
ENST00000700006.1:n.4206_4207insCT (MSH6)
ENST00000700007.1:n.2139_2140insCT (MSH6)
ENST00000700008.1:n.1713_1714insCT (MSH6)
ENST00000700009.1:n.1712_1713insCT (MSH6)
ENST00000700010.1:n.966-13_966-12insCT (MSH6)
ENST00000700011.1:n.2838_2839insCT (MSH6)
ENST00000234420.11:c.3557-13_3557-12insCT (MSH6) MANE Select	ENSP00000234420.5:n.3557-13_3557-12insCT
ENST00000540021.6:c.3167-13_3167-12insCT (MSH6)	ENSP00000446475.1:n.3167-13_3167-12insCT
ENST00000652107.1:c.3260-13_3260-12insCT (MSH6)	ENSP00000498629.1:n.3260-13_3260-12insCT
ENST00000673637.1:c.3260-13_3260-12insCT (MSH6)	ENSP00000501310.1:n.3260-13_3260-12insCT
ENST00000234420.9:c.3557-13_3557-12insCT (MSH6)	ENSP00000234420.4:n.3557-13_3557-12insCT
ENST00000405808.5:c.169+2590_169+2591insGA (FBXO11)	ENSP00000385127.1:n.169+2590_169+2591insGA
ENST00000434234.5:c.*124+2389_*124+2390insGA (FBXO11)	ENSP00000402692.1:n.*124+2389_*124+2390insGA
ENST00000445503.5:c.*2904-13_*2904-12insCT (MSH6)	ENSP00000405294.1:n.*2904-13_*2904-12insCT
ENST00000538136.1:c.2651-13_2651-12insCT (MSH6)	ENSP00000438580.1:n.2651-13_2651-12insCT
ENST00000540021.5:c.3167-13_3167-12insCT (MSH6)	ENSP00000446475.1:n.3167-13_3167-12insCT
ENST00000614496.4:c.2651-13_2651-12insCT (MSH6)	ENSP00000477844.1:n.2651-13_2651-12insCT
ENST00000622629.4:c.461-13_461-12insCT (MSH6)	ENSP00000482078.1:n.461-13_461-12insCT
NM_000179.2:c.3557-13_3557-12insCT , LRG_219t1:c.3557-13_3557-12insCT (MSH6)	NP_000170.1:n.3557-13_3557-12insCT
NM_001281492.1:c.3167-13_3167-12insCT (MSH6)	NP_001268421.1:n.3167-13_3167-12insCT
NM_001281493.1:c.2651-13_2651-12insCT (MSH6)	NP_001268422.1:n.2651-13_2651-12insCT
NM_001281494.1:c.2651-13_2651-12insCT (MSH6)	NP_001268423.1:n.2651-13_2651-12insCT
XM_005264271.1:c.3260-13_3260-12insCT (MSH6)	XP_005264328.1:n.3260-13_3260-12insCT
XM_011532798.1:c.3374-13_3374-12insCT (MSH6)	XP_011531100.1:n.3374-13_3374-12insCT
XM_011532799.1:c.3260-13_3260-12insCT (MSH6)	XP_011531101.1:n.3260-13_3260-12insCT
XM_011532800.1:c.3260-13_3260-12insCT (MSH6)	XP_011531102.1:n.3260-13_3260-12insCT
XM_024452819.1:c.3557-13_3557-12insCT (MSH6)	XP_024308587.1:n.3557-13_3557-12insCT
XM_024452820.1:c.3374-13_3374-12insCT (MSH6)	XP_024308588.1:n.3374-13_3374-12insCT
XM_024452821.1:c.3260-13_3260-12insCT (MSH6)	XP_024308589.1:n.3260-13_3260-12insCT
XM_024452822.1:c.2651-13_2651-12insCT (MSH6)	XP_024308590.1:n.2651-13_2651-12insCT
NM_000179.3:c.3557-13_3557-12insCT (MSH6) MANE Select	NP_000170.1:n.3557-13_3557-12insCT
NM_001281492.2:c.3167-13_3167-12insCT (MSH6)	NP_001268421.1:n.3167-13_3167-12insCT
NM_001281493.2:c.2651-13_2651-12insCT (MSH6)	NP_001268422.1:n.2651-13_2651-12insCT
NM_001281494.2:c.2651-13_2651-12insCT (MSH6)	NP_001268423.1:n.2651-13_2651-12insCT