Canonical Allele Identifier: CA2768670653

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573711_141573821del , CM000667.2:g.141573711_141573821del	GRCh38
NC_000005.9:g.140953278_140953388del , CM000667.1:g.140953278_140953388del	GRCh37
NC_000005.8:g.140933462_140933572del	NCBI36
NG_011594.1:g.50247_50357del
NG_011594.2:g.50247_50357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2041_2151del MANE Select	ENSP00000373706.4:p.Leu681_Pro717del
ENST00000647433.1:c.2041_2151del	ENSP00000494675.1:p.Leu681_Pro717del
ENST00000253811.10:c.1909_2019del	ENSP00000253811.7:p.Leu637_Pro673del
ENST00000389054.7:c.2041_2151del	ENSP00000373706.4:p.Leu681_Pro717del
ENST00000389057.9:c.2014_2124del	ENSP00000373709.6:p.Leu672_Pro708del
ENST00000398557.8:c.2041_2151del	ENSP00000381565.5:p.Leu681_Pro717del
ENST00000518047.5:c.2014_2124del	ENSP00000428268.2:p.Leu672_Pro708del
NM_001079812.2:c.2014_2124del	NP_001073280.1:p.Leu672_Pro708del
NM_001314007.1:c.2041_2151del	NP_001300936.1:p.Leu681_Pro717del
NM_005219.4:c.2041_2151del	NP_005210.3:p.Leu681_Pro717del
XM_011537572.1:c.2005_2115del	XP_011535874.1:p.Leu669_Pro705del
XM_011537573.1:c.1975_2085del	XP_011535875.1:p.Leu659_Pro695del
XM_024454384.1:c.2041_2151del	XP_024310152.1:p.Leu681_Pro717del
XM_024454385.1:c.2014_2124del	XP_024310153.1:p.Leu672_Pro708del
XM_024454386.1:c.2005_2115del	XP_024310154.1:p.Leu669_Pro705del
XM_024454387.1:c.1975_2085del	XP_024310155.1:p.Leu659_Pro695del
NM_005219.5:c.2041_2151del MANE Select	NP_005210.3:p.Leu681_Pro717del
NM_001079812.3:c.2014_2124del	NP_001073280.1:p.Leu672_Pro708del
NM_001314007.2:c.2041_2151del	NP_001300936.1:p.Leu681_Pro717del