Canonical Allele Identifier: CA16618132
Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419689
ClinVar RCV Id: RCV000481192
dbSNP Id: rs1064794044

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573878_141573879delinsA , CM000667.2:g.141573878_141573879delinsA GRCh38
NC_000005.9:g.140953445_140953446delinsA , CM000667.1:g.140953445_140953446delinsA GRCh37
NC_000005.8:g.140933629_140933630delinsA NCBI36
NG_011594.1:g.50177_50178delinsT
NG_011594.2:g.50177_50178delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000389054.8:c.1971_1972delinsT MANE Select ENSP00000373706.4:p.Leu657PhefsTer?
ENST00000647433.1:c.1971_1972delinsT ENSP00000494675.1:p.Leu657PhefsTer?
ENST00000253811.10:c.1839_1840delinsT ENSP00000253811.7:p.Leu613PhefsTer?
ENST00000389054.7:c.1971_1972delinsT ENSP00000373706.4:p.Leu657PhefsTer?
ENST00000389057.9:c.1944_1945delinsT ENSP00000373709.6:p.Leu648PhefsTer?
ENST00000398557.8:c.1971_1972delinsT ENSP00000381565.5:p.Leu657PhefsTer?
ENST00000518047.5:c.1944_1945delinsT ENSP00000428268.2:p.Leu648PhefsTer?
NM_001079812.2:c.1944_1945delinsT NP_001073280.1:p.Leu648PhefsTer?
NM_001314007.1:c.1971_1972delinsT NP_001300936.1:p.Leu657PhefsTer?
NM_005219.4:c.1971_1972delinsT NP_005210.3:p.Leu657PhefsTer?
XM_011537572.1:c.1935_1936delinsT XP_011535874.1:p.Leu645PhefsTer?
XM_011537573.1:c.1905_1906delinsT XP_011535875.1:p.Leu635PhefsTer?
XM_024454384.1:c.1971_1972delinsT XP_024310152.1:p.Leu657PhefsTer?
XM_024454385.1:c.1944_1945delinsT XP_024310153.1:p.Leu648PhefsTer?
XM_024454386.1:c.1935_1936delinsT XP_024310154.1:p.Leu645PhefsTer?
XM_024454387.1:c.1905_1906delinsT XP_024310155.1:p.Leu635PhefsTer?
NM_005219.5:c.1971_1972delinsT MANE Select NP_005210.3:p.Leu657PhefsTer?
NM_001079812.3:c.1944_1945delinsT NP_001073280.1:p.Leu648PhefsTer?
NM_001314007.2:c.1971_1972delinsT NP_001300936.1:p.Leu657PhefsTer?