Canonical Allele Identifier: CA071611

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs751033188
• ExAC: 2:48032873 GACTA / G
• gnomAD v2: 2-48032873-GACTA-G
• gnomAD v3: 2-47805734-GACTA-G
• gnomAD v4: 2-47805734-GACTA-G
• MyVariant Identifiers: chr2:g.48032874_48032877del (hg19) ; chr2:g.47805735_47805738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805735_47805738del , CM000664.2:g.47805735_47805738del	GRCh38
NC_000002.11:g.48032874_48032877del , CM000664.1:g.48032874_48032877del	GRCh37
NC_000002.10:g.47886378_47886381del	NCBI36
NG_007111.1:g.27589_27592del , LRG_219:g.27589_27592del
NG_008397.1:g.104938_104941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3349+28_3349+31del (MSH6)	ENSP00000406248.2:n.3349+28_3349+31del
ENST00000420813.6:c.3349+28_3349+31del (MSH6)	ENSP00000390382.2:n.3349+28_3349+31del
ENST00000455383.6:c.3349+28_3349+31del (MSH6)	ENSP00000397484.2:n.3349+28_3349+31del
ENST00000700004.2:c.3262+28_3262+31del (MSH6)	ENSP00000514752.2:n.3262+28_3262+31del
ENST00000699999.1:n.4320+28_4320+31del (MSH6)
ENST00000700000.1:c.2080+28_2080+31del (MSH6)	ENSP00000514749.1:n.2080+28_2080+31del
ENST00000700002.1:c.3652+28_3652+31del (MSH6)	ENSP00000514750.1:n.3652+28_3652+31del
ENST00000700003.1:c.1101+28_1101+31del (MSH6)	ENSP00000514751.1:n.1101+28_1101+31del
ENST00000700004.1:c.2419+28_2419+31del (MSH6)	ENSP00000514752.1:n.2419+28_2419+31del
ENST00000700005.1:n.2497+28_2497+31del (MSH6)
ENST00000700006.1:n.4336_4339del (MSH6)
ENST00000700007.1:n.2241+28_2241+31del (MSH6)
ENST00000700008.1:n.1815+28_1815+31del (MSH6)
ENST00000700009.1:n.1842_1845del (MSH6)
ENST00000700010.1:n.1055+28_1055+31del (MSH6)
ENST00000700011.1:n.2940+28_2940+31del (MSH6)
ENST00000234420.11:c.3646+28_3646+31del (MSH6) MANE Select	ENSP00000234420.5:n.3646+28_3646+31del
ENST00000540021.6:c.3256+28_3256+31del (MSH6)	ENSP00000446475.1:n.3256+28_3256+31del
ENST00000652107.1:c.3349+28_3349+31del (MSH6)	ENSP00000498629.1:n.3349+28_3349+31del
ENST00000673637.1:c.3349+28_3349+31del (MSH6)	ENSP00000501310.1:n.3349+28_3349+31del
ENST00000234420.9:c.3646+28_3646+31del (MSH6)	ENSP00000234420.4:n.3646+28_3646+31del
ENST00000405808.5:c.169+2457_169+2460del (FBXO11)	ENSP00000385127.1:n.169+2457_169+2460del
ENST00000434234.5:c.*124+2256_*124+2259del (FBXO11)	ENSP00000402692.1:n.*124+2256_*124+2259del
ENST00000445503.5:c.*2993+28_*2993+31del (MSH6)	ENSP00000405294.1:n.*2993+28_*2993+31del
ENST00000538136.1:c.2740+28_2740+31del (MSH6)	ENSP00000438580.1:n.2740+28_2740+31del
ENST00000540021.5:c.3256+28_3256+31del (MSH6)	ENSP00000446475.1:n.3256+28_3256+31del
ENST00000614496.4:c.2740+28_2740+31del (MSH6)	ENSP00000477844.1:n.2740+28_2740+31del
ENST00000622629.4:c.550+28_550+31del (MSH6)	ENSP00000482078.1:n.550+28_550+31del
NM_000179.2:c.3646+28_3646+31del , LRG_219t1:c.3646+28_3646+31del (MSH6)	NP_000170.1:n.3646+28_3646+31del
NM_001281492.1:c.3256+28_3256+31del (MSH6)	NP_001268421.1:n.3256+28_3256+31del
NM_001281493.1:c.2740+28_2740+31del (MSH6)	NP_001268422.1:n.2740+28_2740+31del
NM_001281494.1:c.2740+28_2740+31del (MSH6)	NP_001268423.1:n.2740+28_2740+31del
XM_005264271.1:c.3349+28_3349+31del (MSH6)	XP_005264328.1:n.3349+28_3349+31del
XM_011532798.1:c.3463+28_3463+31del (MSH6)	XP_011531100.1:n.3463+28_3463+31del
XM_011532799.1:c.3349+28_3349+31del (MSH6)	XP_011531101.1:n.3349+28_3349+31del
XM_011532800.1:c.3349+28_3349+31del (MSH6)	XP_011531102.1:n.3349+28_3349+31del
XM_024452819.1:c.3646+28_3646+31del (MSH6)	XP_024308587.1:n.3646+28_3646+31del
XM_024452820.1:c.3463+28_3463+31del (MSH6)	XP_024308588.1:n.3463+28_3463+31del
XM_024452821.1:c.3349+28_3349+31del (MSH6)	XP_024308589.1:n.3349+28_3349+31del
XM_024452822.1:c.2740+28_2740+31del (MSH6)	XP_024308590.1:n.2740+28_2740+31del
NM_000179.3:c.3646+28_3646+31del (MSH6) MANE Select	NP_000170.1:n.3646+28_3646+31del
NM_001281492.2:c.3256+28_3256+31del (MSH6)	NP_001268421.1:n.3256+28_3256+31del
NM_001281493.2:c.2740+28_2740+31del (MSH6)	NP_001268422.1:n.2740+28_2740+31del
NM_001281494.2:c.2740+28_2740+31del (MSH6)	NP_001268423.1:n.2740+28_2740+31del