Canonical Allele Identifier: CA1619384527

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969845_31969847delinsCAG , CM000668.2:g.31969845_31969847delinsCAG GRCh38
NC_000006.11:g.31937622_31937624delinsCAG , CM000668.1:g.31937622_31937624delinsCAG GRCh37
NC_000006.10:g.32045601_32045603delinsCAG NCBI36
NG_032652.1:g.16042_16044delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*30_*32delinsCTG (DXO) MANE Select ENSP00000337759.5:n.*30_*32delinsCTG
ENST00000337523.9:c.*30_*32delinsCTG (DXO) ENSP00000337759.5:n.*30_*32delinsCTG
ENST00000375349.7:c.*30_*32delinsCTG (DXO) ENSP00000364498.3:n.*30_*32delinsCTG
ENST00000375356.7:c.*30_*32delinsCTG (DXO) ENSP00000364505.3:n.*30_*32delinsCTG
ENST00000473976.1:n.1993_1995delinsCTG (DXO)
ENST00000477826.5:n.2056_2058delinsCTG (DXO)
ENST00000478221.5:n.1102_1104delinsCTG (DXO)
ENST00000485557.5:n.1841_1843delinsCTG (DXO)
ENST00000491327.5:n.1358_1360delinsCTG (DXO)
ENST00000495340.5:c.554_556delinsCTG (DXO)
NM_005510.3:c.*30_*32delinsCTG (DXO) NP_005501.2:n.*30_*32delinsCTG
XM_006715005.2:c.*30_*32delinsCTG (DXO) XP_006715068.1:n.*30_*32delinsCTG
XM_006715007.2:c.*30_*32delinsCTG (DXO) XP_006715070.1:n.*30_*32delinsCTG
XR_926081.1:n.1694_1696delinsCTG (DXO)
XR_926082.1:n.1721_1723delinsCTG (DXO)
XM_006715005.3:c.*30_*32delinsCTG (DXO) XP_006715068.1:n.*30_*32delinsCTG
XM_017010329.1:c.*30_*32delinsCTG (DXO) XP_016865818.1:n.*30_*32delinsCTG
XR_002956262.1:n.1453_1455delinsCTG (DXO)
XR_002956263.1:n.1619_1621delinsCTG (DXO)
XR_002956264.1:n.1519_1521delinsCTG (DXO)
XR_926082.2:n.1461_1463delinsCTG (DXO)
XR_926301.3:n.3887_3889delinsCAG (SKIC2)
NM_005510.4:c.*30_*32delinsCTG (DXO) MANE Select NP_005501.2:n.*30_*32delinsCTG
NM_001371205.1:c.*30_*32delinsCTG (DXO) NP_001358134.1:n.*30_*32delinsCTG
NM_001371206.1:c.*30_*32delinsCTG (DXO) NP_001358135.1:n.*30_*32delinsCTG