Canonical Allele Identifier: CA1139771539

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574002_141574003insAGAGGA , CM000667.2:g.141574002_141574003insAGAGGA	GRCh38
NC_000005.9:g.140953569_140953570insAGAGGA , CM000667.1:g.140953569_140953570insAGAGGA	GRCh37
NC_000005.8:g.140933753_140933754insAGAGGA	NCBI36
NG_011594.1:g.50058_50059insTTCCTC
NG_011594.2:g.50058_50059insTTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1852_1853insTTCCTC MANE Select	ENSP00000373706.4:p.Pro617_Pro618insLeuPro
ENST00000647433.1:c.1852_1853insTTCCTC	ENSP00000494675.1:p.Pro617_Pro618insLeuPro
ENST00000253811.10:c.1720_1721insTTCCTC	ENSP00000253811.7:p.Pro573_Pro574insLeuPro
ENST00000389054.7:c.1852_1853insTTCCTC	ENSP00000373706.4:p.Pro617_Pro618insLeuPro
ENST00000389057.9:c.1825_1826insTTCCTC	ENSP00000373709.6:p.Pro608_Pro609insLeuPro
ENST00000398557.8:c.1852_1853insTTCCTC	ENSP00000381565.5:p.Pro617_Pro618insLeuPro
ENST00000518047.5:c.1825_1826insTTCCTC	ENSP00000428268.2:p.Pro608_Pro609insLeuPro
NM_001079812.2:c.1825_1826insTTCCTC	NP_001073280.1:p.Pro608_Pro609insLeuPro
NM_001314007.1:c.1852_1853insTTCCTC	NP_001300936.1:p.Pro617_Pro618insLeuPro
NM_005219.4:c.1852_1853insTTCCTC	NP_005210.3:p.Pro617_Pro618insLeuPro
XM_011537572.1:c.1816_1817insTTCCTC	XP_011535874.1:p.Pro605_Pro606insLeuPro
XM_011537573.1:c.1786_1787insTTCCTC	XP_011535875.1:p.Pro595_Pro596insLeuPro
XM_024454384.1:c.1852_1853insTTCCTC	XP_024310152.1:p.Pro617_Pro618insLeuPro
XM_024454385.1:c.1825_1826insTTCCTC	XP_024310153.1:p.Pro608_Pro609insLeuPro
XM_024454386.1:c.1816_1817insTTCCTC	XP_024310154.1:p.Pro605_Pro606insLeuPro
XM_024454387.1:c.1786_1787insTTCCTC	XP_024310155.1:p.Pro595_Pro596insLeuPro
NM_005219.5:c.1852_1853insTTCCTC MANE Select	NP_005210.3:p.Pro617_Pro618insLeuPro
NM_001079812.3:c.1825_1826insTTCCTC	NP_001073280.1:p.Pro608_Pro609insLeuPro
NM_001314007.2:c.1852_1853insTTCCTC	NP_001300936.1:p.Pro617_Pro618insLeuPro