Canonical Allele Identifier: CA072511

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs746547813
• ExAC: 2:48033815 T / TATAACTAACTGACCTTAAGTTTC
• gnomAD v2: 2-48033815-T-TATAACTAACTGACCTTAAGTTTC
• gnomAD v3: 2-47806676-T-TATAACTAACTGACCTTAAGTTTC
• gnomAD v4: 2-47806676-T-TATAACTAACTGACCTTAAGTTTC
• MyVariant Identifiers: chr2:g.48033815_48033816insATAACTAACTGACCTTAAGTTTC (hg19) ; chr2:g.47806676_47806677insATAACTAACTGACCTTAAGTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806678_47806700dup , CM000664.2:g.47806678_47806700dup	GRCh38
NC_000002.11:g.48033817_48033839dup , CM000664.1:g.48033817_48033839dup	GRCh37
NC_000002.10:g.47887321_47887343dup	NCBI36
NG_007111.1:g.28532_28554dup , LRG_219:g.28532_28554dup
NG_008397.1:g.103977_103999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3704+27_3704+49dup (MSH6)	ENSP00000406248.2:n.3704+27_3704+49dup
ENST00000420813.6:c.3704+27_3704+49dup (MSH6)	ENSP00000390382.2:n.3704+27_3704+49dup
ENST00000455383.6:c.3704+27_3704+49dup (MSH6)	ENSP00000397484.2:n.3704+27_3704+49dup
ENST00000700004.2:c.3617+27_3617+49dup (MSH6)	ENSP00000514752.2:n.3617+27_3617+49dup
ENST00000699999.1:n.4675+27_4675+49dup (MSH6)
ENST00000700000.1:c.2435+27_2435+49dup (MSH6)	ENSP00000514749.1:n.2435+27_2435+49dup
ENST00000700002.1:c.4007+27_4007+49dup (MSH6)	ENSP00000514750.1:n.4007+27_4007+49dup
ENST00000700003.1:c.1456+27_1456+49dup (MSH6)	ENSP00000514751.1:n.1456+27_1456+49dup
ENST00000700004.1:c.2774+27_2774+49dup (MSH6)	ENSP00000514752.1:n.2774+27_2774+49dup
ENST00000700005.1:n.2879_2901dup (MSH6)
ENST00000700006.1:n.5186_5208dup (MSH6)
ENST00000700007.1:n.2596+27_2596+49dup (MSH6)
ENST00000700008.1:n.2263+27_2263+49dup (MSH6)
ENST00000700009.1:n.2665+27_2665+49dup (MSH6)
ENST00000700010.1:n.1410+27_1410+49dup (MSH6)
ENST00000700011.1:n.3295+27_3295+49dup (MSH6)
ENST00000682451.1:n.4049_4071dup (FBXO11)
ENST00000684712.1:n.4311_4333dup (FBXO11)
ENST00000234420.11:c.4001+27_4001+49dup (MSH6) MANE Select	ENSP00000234420.5:n.4001+27_4001+49dup
ENST00000540021.6:c.3611+27_3611+49dup (MSH6)	ENSP00000446475.1:n.3611+27_3611+49dup
ENST00000652107.1:c.3704+27_3704+49dup (MSH6)	ENSP00000498629.1:n.3704+27_3704+49dup
ENST00000673637.1:c.3704+27_3704+49dup (MSH6)	ENSP00000501310.1:n.3704+27_3704+49dup
ENST00000234420.9:c.4001+27_4001+49dup (MSH6)	ENSP00000234420.4:n.4001+27_4001+49dup
ENST00000405808.5:c.169+1496_169+1518dup (FBXO11)	ENSP00000385127.1:n.169+1496_169+1518dup
ENST00000434234.5:c.*124+1295_*124+1317dup (FBXO11)	ENSP00000402692.1:n.*124+1295_*124+1317dup
ENST00000445503.5:c.*3348+27_*3348+49dup (MSH6)	ENSP00000405294.1:n.*3348+27_*3348+49dup
ENST00000538136.1:c.3095+27_3095+49dup (MSH6)	ENSP00000438580.1:n.3095+27_3095+49dup
ENST00000540021.5:c.3611+27_3611+49dup (MSH6)	ENSP00000446475.1:n.3611+27_3611+49dup
ENST00000614496.4:c.3095+27_3095+49dup (MSH6)	ENSP00000477844.1:n.3095+27_3095+49dup
ENST00000622629.4:c.902+27_902+49dup (MSH6)	ENSP00000482078.1:n.902+27_902+49dup
NM_000179.2:c.4001+27_4001+49dup , LRG_219t1:c.4001+27_4001+49dup (MSH6)	NP_000170.1:n.4001+27_4001+49dup
NM_001281492.1:c.3611+27_3611+49dup (MSH6)	NP_001268421.1:n.3611+27_3611+49dup
NM_001281493.1:c.3095+27_3095+49dup (MSH6)	NP_001268422.1:n.3095+27_3095+49dup
NM_001281494.1:c.3095+27_3095+49dup (MSH6)	NP_001268423.1:n.3095+27_3095+49dup
XM_005264271.1:c.3704+27_3704+49dup (MSH6)	XP_005264328.1:n.3704+27_3704+49dup
XM_011532798.1:c.3818+27_3818+49dup (MSH6)	XP_011531100.1:n.3818+27_3818+49dup
XM_011532799.1:c.3704+27_3704+49dup (MSH6)	XP_011531101.1:n.3704+27_3704+49dup
XM_011532800.1:c.3704+27_3704+49dup (MSH6)	XP_011531102.1:n.3704+27_3704+49dup
XM_024452819.1:c.4094+27_4094+49dup (MSH6)	XP_024308587.1:n.4094+27_4094+49dup
XM_024452820.1:c.3911+27_3911+49dup (MSH6)	XP_024308588.1:n.3911+27_3911+49dup
XM_024452821.1:c.3797+27_3797+49dup (MSH6)	XP_024308589.1:n.3797+27_3797+49dup
XM_024452822.1:c.3188+27_3188+49dup (MSH6)	XP_024308590.1:n.3188+27_3188+49dup
NM_000179.3:c.4001+27_4001+49dup (MSH6) MANE Select	NP_000170.1:n.4001+27_4001+49dup
NM_001281492.2:c.3611+27_3611+49dup (MSH6)	NP_001268421.1:n.3611+27_3611+49dup
NM_001281493.2:c.3095+27_3095+49dup (MSH6)	NP_001268422.1:n.3095+27_3095+49dup
NM_001281494.2:c.3095+27_3095+49dup (MSH6)	NP_001268423.1:n.3095+27_3095+49dup