Canonical Allele Identifier: CA3478716
Gene: DIAPH1 HGNC NCBI

Linked Data

dbSNP Id: rs745885817

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141524103_141524106dup , CM000667.2:g.141524103_141524106dup GRCh38
NC_000005.9:g.140903670_140903673dup , CM000667.1:g.140903670_140903673dup GRCh37
NC_000005.8:g.140883854_140883857dup NCBI36
NG_011594.1:g.99951_99954dup
NG_011594.2:g.99951_99954dup

Transcript Alleles

HGVS Amino-acid change
ENST00000389054.8:c.3661+38_3661+41dup MANE Select ENSP00000373706.4:n.3661+38_3661+41dup
ENST00000448451.6:c.67+38_67+41dup ENSP00000408159.2:n.67+38_67+41dup
ENST00000643312.1:c.67+38_67+41dup ENSP00000495191.1:n.67+38_67+41dup
ENST00000643718.1:n.141+38_141+41dup
ENST00000647433.1:c.3661+38_3661+41dup ENSP00000494675.1:n.3661+38_3661+41dup
ENST00000253811.10:c.3529+38_3529+41dup ENSP00000253811.7:n.3529+38_3529+41dup
ENST00000389054.7:c.3661+38_3661+41dup ENSP00000373706.4:n.3661+38_3661+41dup
ENST00000389057.9:c.3634+38_3634+41dup ENSP00000373709.6:n.3634+38_3634+41dup
ENST00000398557.8:c.3661+38_3661+41dup ENSP00000381565.5:n.3661+38_3661+41dup
ENST00000448451.5:c.197+38_197+41dup
ENST00000468119.3:n.182+38_182+41dup
ENST00000476339.1:n.613+38_613+41dup
ENST00000518047.5:c.3634+38_3634+41dup ENSP00000428268.2:n.3634+38_3634+41dup
NM_001079812.2:c.3634+38_3634+41dup NP_001073280.1:n.3634+38_3634+41dup
NM_001314007.1:c.3661+38_3661+41dup NP_001300936.1:n.3661+38_3661+41dup
NM_005219.4:c.3661+38_3661+41dup NP_005210.3:n.3661+38_3661+41dup
XM_011537572.1:c.3625+38_3625+41dup XP_011535874.1:n.3625+38_3625+41dup
XM_011537573.1:c.3595+38_3595+41dup XP_011535875.1:n.3595+38_3595+41dup
XM_024454384.1:c.3784+38_3784+41dup XP_024310152.1:n.3784+38_3784+41dup
XM_024454385.1:c.3757+38_3757+41dup XP_024310153.1:n.3757+38_3757+41dup
XM_024454386.1:c.3748+38_3748+41dup XP_024310154.1:n.3748+38_3748+41dup
XM_024454387.1:c.3718+38_3718+41dup XP_024310155.1:n.3718+38_3718+41dup
NM_005219.5:c.3661+38_3661+41dup MANE Select NP_005210.3:n.3661+38_3661+41dup
NM_001079812.3:c.3634+38_3634+41dup NP_001073280.1:n.3634+38_3634+41dup
NM_001314007.2:c.3661+38_3661+41dup NP_001300936.1:n.3661+38_3661+41dup