Canonical Allele Identifier: CA3479158

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1040334
• ClinVar RCV Id: RCV001343948
• dbSNP Id: rs746438941
• ExAC: 5:140953311 GGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT / G
• gnomAD v2: 5-140953311-GGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT-G
• gnomAD v3: 5-141573744-GGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT-G
• gnomAD v4: 5-141573744-GGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT-G
• MyVariant Identifiers: chr5:g.140953312_140953350del (hg19) ; chr5:g.141573745_141573783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573750_141573788del , CM000667.2:g.141573750_141573788del	GRCh38
NC_000005.9:g.140953317_140953355del , CM000667.1:g.140953317_140953355del	GRCh37
NC_000005.8:g.140933501_140933539del	NCBI36
NG_011594.1:g.50273_50311del
NG_011594.2:g.50273_50311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2067_2105del MANE Select	ENSP00000373706.4:p.Pro690_Pro702del
ENST00000647433.1:c.2067_2105del	ENSP00000494675.1:p.Pro690_Pro702del
ENST00000253811.10:c.1935_1973del	ENSP00000253811.7:p.Pro646_Pro658del
ENST00000389054.7:c.2067_2105del	ENSP00000373706.4:p.Pro690_Pro702del
ENST00000389057.9:c.2040_2078del	ENSP00000373709.6:p.Pro681_Pro693del
ENST00000398557.8:c.2067_2105del	ENSP00000381565.5:p.Pro690_Pro702del
ENST00000518047.5:c.2040_2078del	ENSP00000428268.2:p.Pro681_Pro693del
NM_001079812.2:c.2040_2078del	NP_001073280.1:p.Pro681_Pro693del
NM_001314007.1:c.2067_2105del	NP_001300936.1:p.Pro690_Pro702del
NM_005219.4:c.2067_2105del	NP_005210.3:p.Pro690_Pro702del
XM_011537572.1:c.2031_2069del	XP_011535874.1:p.Pro678_Pro690del
XM_011537573.1:c.2001_2039del	XP_011535875.1:p.Pro668_Pro680del
XM_024454384.1:c.2067_2105del	XP_024310152.1:p.Pro690_Pro702del
XM_024454385.1:c.2040_2078del	XP_024310153.1:p.Pro681_Pro693del
XM_024454386.1:c.2031_2069del	XP_024310154.1:p.Pro678_Pro690del
XM_024454387.1:c.2001_2039del	XP_024310155.1:p.Pro668_Pro680del
NM_005219.5:c.2067_2105del MANE Select	NP_005210.3:p.Pro690_Pro702del
NM_001079812.3:c.2040_2078del	NP_001073280.1:p.Pro681_Pro693del
NM_001314007.2:c.2067_2105del	NP_001300936.1:p.Pro690_Pro702del