Canonical Allele Identifier: CA1082278652

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573732-GGGAGGAGGTGGGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCTAGCACTCCCAGGCAAA-G
• gnomAD v4: 5-141573732-GGGAGGAGGTGGGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCTAGCACTCCCAGGCAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573748_141573825del , CM000667.2:g.141573748_141573825del	GRCh38
NC_000005.9:g.140953315_140953392del , CM000667.1:g.140953315_140953392del	GRCh37
NC_000005.8:g.140933499_140933576del	NCBI36
NG_011594.1:g.50246_50323del
NG_011594.2:g.50246_50323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2040_2117del MANE Select	ENSP00000373706.4:p.Leu681_Pro706del
ENST00000647433.1:c.2040_2117del	ENSP00000494675.1:p.Leu681_Pro706del
ENST00000253811.10:c.1908_1985del	ENSP00000253811.7:p.Leu637_Pro662del
ENST00000389054.7:c.2040_2117del	ENSP00000373706.4:p.Leu681_Pro706del
ENST00000389057.9:c.2013_2090del	ENSP00000373709.6:p.Leu672_Pro697del
ENST00000398557.8:c.2040_2117del	ENSP00000381565.5:p.Leu681_Pro706del
ENST00000518047.5:c.2013_2090del	ENSP00000428268.2:p.Leu672_Pro697del
NM_001079812.2:c.2013_2090del	NP_001073280.1:p.Leu672_Pro697del
NM_001314007.1:c.2040_2117del	NP_001300936.1:p.Leu681_Pro706del
NM_005219.4:c.2040_2117del	NP_005210.3:p.Leu681_Pro706del
XM_011537572.1:c.2004_2081del	XP_011535874.1:p.Leu669_Pro694del
XM_011537573.1:c.1974_2051del	XP_011535875.1:p.Leu659_Pro684del
XM_024454384.1:c.2040_2117del	XP_024310152.1:p.Leu681_Pro706del
XM_024454385.1:c.2013_2090del	XP_024310153.1:p.Leu672_Pro697del
XM_024454386.1:c.2004_2081del	XP_024310154.1:p.Leu669_Pro694del
XM_024454387.1:c.1974_2051del	XP_024310155.1:p.Leu659_Pro684del
NM_005219.5:c.2040_2117del MANE Select	NP_005210.3:p.Leu681_Pro706del
NM_001079812.3:c.2013_2090del	NP_001073280.1:p.Leu672_Pro697del
NM_001314007.2:c.2040_2117del	NP_001300936.1:p.Leu681_Pro706del