Canonical Allele Identifier: CA2580611344

Linked Data

ClinVar Variation Id: 2567472
ClinVar RCV Id: RCV003278519

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806758_47806811del , CM000664.2:g.47806758_47806811del GRCh38
NC_000002.11:g.48033897_48033950del , CM000664.1:g.48033897_48033950del GRCh37
NC_000002.10:g.47887401_47887454del NCBI36
NG_007111.1:g.28612_28665del , LRG_219:g.28612_28665del
NG_008397.1:g.103866_103919del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3705-21_3737del (MSH6)
ENST00000420813.6:c.3705-21_3737del (MSH6)
ENST00000455383.6:c.3705-21_3737del (MSH6)
ENST00000700004.2:c.3618-21_3650del (MSH6)
ENST00000699999.1:n.4676-21_4708del (MSH6)
ENST00000700000.1:c.2436-21_2468del (MSH6)
ENST00000700002.1:c.4008-21_4040del (MSH6)
ENST00000700003.1:c.1457-21_1489del (MSH6)
ENST00000700004.1:c.2775-21_2807del (MSH6)
ENST00000700005.1:n.2959_3012del (MSH6)
ENST00000700007.1:n.2597-21_2629del (MSH6)
ENST00000700008.1:n.2264-21_2296del (MSH6)
ENST00000700009.1:n.2666-21_2698del (MSH6)
ENST00000700010.1:n.1411-21_1443del (MSH6)
ENST00000700011.1:n.3296-21_3328del (MSH6)
ENST00000682451.1:n.3938_3991del (FBXO11)
ENST00000684712.1:n.4200_4253del (FBXO11)
ENST00000234420.11:c.4002-21_4034del (MSH6)
ENST00000540021.6:c.3612-21_3644del (MSH6)
ENST00000652107.1:c.3705-21_3737del (MSH6)
ENST00000673637.1:c.3705-21_3737del (MSH6)
ENST00000234420.9:c.4002-21_4034del (MSH6)
ENST00000405808.5:c.169+1385_169+1438del (FBXO11) ENSP00000385127.1:n.169+1385_169+1438del
ENST00000434234.5:c.*124+1184_*124+1237del (FBXO11) ENSP00000402692.1:n.*124+1184_*124+1237del
ENST00000445503.5:c.*3349-21_*3381del (MSH6)
ENST00000465204.5:n.3100_3153del (FBXO11)
ENST00000538136.1:c.3096-21_3128del (MSH6)
ENST00000540021.5:c.3612-21_3644del (MSH6)
ENST00000614496.4:c.3096-21_3128del (MSH6)
ENST00000622629.4:c.903-21_935del (MSH6)
NM_000179.2:c.4002-21_4034del , LRG_219t1:c.4002-21_4034del (MSH6)
NM_001281492.1:c.3612-21_3644del (MSH6)
NM_001281493.1:c.3096-21_3128del (MSH6)
NM_001281494.1:c.3096-21_3128del (MSH6)
XM_005264271.1:c.3705-21_3737del (MSH6)
XM_011532798.1:c.3819-21_3851del (MSH6)
XM_011532799.1:c.3705-21_3737del (MSH6)
XM_011532800.1:c.3705-21_3737del (MSH6)
XM_024452819.1:c.4095-21_4127del (MSH6)
XM_024452820.1:c.3912-21_3944del (MSH6)
XM_024452821.1:c.3798-21_3830del (MSH6)
XM_024452822.1:c.3189-21_3221del (MSH6)
NM_000179.3:c.4002-21_4034del (MSH6)
NM_001281492.2:c.3612-21_3644del (MSH6)
NM_001281493.2:c.3096-21_3128del (MSH6)
NM_001281494.2:c.3096-21_3128del (MSH6)