Canonical Allele Identifier: CA2695200542

Linked Data

ClinVar Variation Id: 2650883
ClinVar RCV Id: RCV003426951

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806647_47806714dup , CM000664.2:g.47806647_47806714dup GRCh38
NC_000002.11:g.48033786_48033853dup , CM000664.1:g.48033786_48033853dup GRCh37
NC_000002.10:g.47887290_47887357dup NCBI36
NG_007111.1:g.28501_28568dup , LRG_219:g.28501_28568dup
NG_008397.1:g.103963_104030dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3700_3704+63dup (MSH6)
ENST00000420813.6:c.3700_3704+63dup (MSH6)
ENST00000455383.6:c.3700_3704+63dup (MSH6)
ENST00000700004.2:c.3613_3617+63dup (MSH6)
ENST00000699999.1:n.4671_4675+63dup (MSH6)
ENST00000700000.1:c.2431_2435+63dup (MSH6)
ENST00000700002.1:c.4003_4007+63dup (MSH6)
ENST00000700003.1:c.1452_1456+63dup (MSH6)
ENST00000700004.1:c.2770_2774+63dup (MSH6)
ENST00000700005.1:n.2848_2915dup (MSH6)
ENST00000700006.1:n.5155_5222dup (MSH6)
ENST00000700007.1:n.2592_2596+63dup (MSH6)
ENST00000700008.1:n.2259_2263+63dup (MSH6)
ENST00000700009.1:n.2661_2665+63dup (MSH6)
ENST00000700010.1:n.1406_1410+63dup (MSH6)
ENST00000700011.1:n.3291_3295+63dup (MSH6)
ENST00000682451.1:n.4035_4102dup (FBXO11)
ENST00000684712.1:n.4297_4364dup (FBXO11)
ENST00000234420.11:c.3997_4001+63dup (MSH6)
ENST00000540021.6:c.3607_3611+63dup (MSH6)
ENST00000652107.1:c.3700_3704+63dup (MSH6)
ENST00000673637.1:c.3700_3704+63dup (MSH6)
ENST00000234420.9:c.3997_4001+63dup (MSH6)
ENST00000405808.5:c.169+1482_169+1549dup (FBXO11) ENSP00000385127.1:n.169+1482_169+1549dup
ENST00000434234.5:c.*124+1281_*124+1348dup (FBXO11) ENSP00000402692.1:n.*124+1281_*124+1348dup
ENST00000445503.5:c.*3344_*3348+63dup (MSH6)
ENST00000538136.1:c.3091_3095+63dup (MSH6)
ENST00000540021.5:c.3607_3611+63dup (MSH6)
ENST00000614496.4:c.3091_3095+63dup (MSH6)
ENST00000622629.4:c.898_902+63dup (MSH6)
NM_000179.2:c.3997_4001+63dup , LRG_219t1:c.3997_4001+63dup (MSH6)
NM_001281492.1:c.3607_3611+63dup (MSH6)
NM_001281493.1:c.3091_3095+63dup (MSH6)
NM_001281494.1:c.3091_3095+63dup (MSH6)
XM_005264271.1:c.3700_3704+63dup (MSH6)
XM_011532798.1:c.3814_3818+63dup (MSH6)
XM_011532799.1:c.3700_3704+63dup (MSH6)
XM_011532800.1:c.3700_3704+63dup (MSH6)
XM_024452819.1:c.4090_4094+63dup (MSH6)
XM_024452820.1:c.3907_3911+63dup (MSH6)
XM_024452821.1:c.3793_3797+63dup (MSH6)
XM_024452822.1:c.3184_3188+63dup (MSH6)
NM_000179.3:c.3997_4001+63dup (MSH6)
NM_001281492.2:c.3607_3611+63dup (MSH6)
NM_001281493.2:c.3091_3095+63dup (MSH6)
NM_001281494.2:c.3091_3095+63dup (MSH6)