Canonical Allele Identifier: CA1082278749

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573802-CCAGGCAAAGGAGGAGGTGGGGGGATGGCAGTACCTCCAGGCAAAGAAGAGGGTGAAGGGATGCCAACACCCT-C
• gnomAD v4: 5-141573802-CCAGGCAAAGGAGGAGGTGGGGGGATGGCAGTACCTCCAGGCAAAGAAGAGGGTGAAGGGATGCCAACACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573816_141573887del , CM000667.2:g.141573816_141573887del	GRCh38
NC_000005.9:g.140953383_140953454del , CM000667.1:g.140953383_140953454del	GRCh37
NC_000005.8:g.140933567_140933638del	NCBI36
NG_011594.1:g.50182_50253del
NG_011594.2:g.50182_50253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1976_2047del MANE Select	ENSP00000373706.4:p.Glu659_Pro682del
ENST00000647433.1:c.1976_2047del	ENSP00000494675.1:p.Glu659_Pro682del
ENST00000253811.10:c.1844_1915del	ENSP00000253811.7:p.Glu615_Pro638del
ENST00000389054.7:c.1976_2047del	ENSP00000373706.4:p.Glu659_Pro682del
ENST00000389057.9:c.1949_2020del	ENSP00000373709.6:p.Glu650_Pro673del
ENST00000398557.8:c.1976_2047del	ENSP00000381565.5:p.Glu659_Pro682del
ENST00000518047.5:c.1949_2020del	ENSP00000428268.2:p.Glu650_Pro673del
NM_001079812.2:c.1949_2020del	NP_001073280.1:p.Glu650_Pro673del
NM_001314007.1:c.1976_2047del	NP_001300936.1:p.Glu659_Pro682del
NM_005219.4:c.1976_2047del	NP_005210.3:p.Glu659_Pro682del
XM_011537572.1:c.1940_2011del	XP_011535874.1:p.Glu647_Pro670del
XM_011537573.1:c.1910_1981del	XP_011535875.1:p.Glu637_Pro660del
XM_024454384.1:c.1976_2047del	XP_024310152.1:p.Glu659_Pro682del
XM_024454385.1:c.1949_2020del	XP_024310153.1:p.Glu650_Pro673del
XM_024454386.1:c.1940_2011del	XP_024310154.1:p.Glu647_Pro670del
XM_024454387.1:c.1910_1981del	XP_024310155.1:p.Glu637_Pro660del
NM_005219.5:c.1976_2047del MANE Select	NP_005210.3:p.Glu659_Pro682del
NM_001079812.3:c.1949_2020del	NP_001073280.1:p.Glu650_Pro673del
NM_001314007.2:c.1976_2047del	NP_001300936.1:p.Glu659_Pro682del