Canonical Allele Identifier: CA1082278789

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573822-GGGGATGGCAGTACCTCCAGGCAAAGAAGAGGGTGAAGGGATGCCAACACCCTCAGGCAAAGGAGGGGGTGGA-G
• gnomAD v4: 5-141573822-GGGGATGGCAGTACCTCCAGGCAAAGAAGAGGGTGAAGGGATGCCAACACCCTCAGGCAAAGGAGGGGGTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573830_141573901del , CM000667.2:g.141573830_141573901del	GRCh38
NC_000005.9:g.140953397_140953468del , CM000667.1:g.140953397_140953468del	GRCh37
NC_000005.8:g.140933581_140933652del	NCBI36
NG_011594.1:g.50162_50233del
NG_011594.2:g.50162_50233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1956_2027del MANE Select	ENSP00000373706.4:p.Pro653_Pro676del
ENST00000647433.1:c.1956_2027del	ENSP00000494675.1:p.Pro653_Pro676del
ENST00000253811.10:c.1824_1895del	ENSP00000253811.7:p.Pro609_Pro632del
ENST00000389054.7:c.1956_2027del	ENSP00000373706.4:p.Pro653_Pro676del
ENST00000389057.9:c.1929_2000del	ENSP00000373709.6:p.Pro644_Pro667del
ENST00000398557.8:c.1956_2027del	ENSP00000381565.5:p.Pro653_Pro676del
ENST00000518047.5:c.1929_2000del	ENSP00000428268.2:p.Pro644_Pro667del
NM_001079812.2:c.1929_2000del	NP_001073280.1:p.Pro644_Pro667del
NM_001314007.1:c.1956_2027del	NP_001300936.1:p.Pro653_Pro676del
NM_005219.4:c.1956_2027del	NP_005210.3:p.Pro653_Pro676del
XM_011537572.1:c.1920_1991del	XP_011535874.1:p.Pro641_Pro664del
XM_011537573.1:c.1890_1961del	XP_011535875.1:p.Pro631_Pro654del
XM_024454384.1:c.1956_2027del	XP_024310152.1:p.Pro653_Pro676del
XM_024454385.1:c.1929_2000del	XP_024310153.1:p.Pro644_Pro667del
XM_024454386.1:c.1920_1991del	XP_024310154.1:p.Pro641_Pro664del
XM_024454387.1:c.1890_1961del	XP_024310155.1:p.Pro631_Pro654del
NM_005219.5:c.1956_2027del MANE Select	NP_005210.3:p.Pro653_Pro676del
NM_001079812.3:c.1929_2000del	NP_001073280.1:p.Pro644_Pro667del
NM_001314007.2:c.1956_2027del	NP_001300936.1:p.Pro653_Pro676del