Canonical Allele Identifier: CA563502799

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 542361
• ClinVar RCV Id: RCV000652770 ; RCV003918079 ; RCV004025885
• dbSNP Id: rs3075570
• gnomAD v2: 5-140953563-T-TGGAGGAGGA
• gnomAD v3: 5-141573996-T-TGGAGGAGGA
• gnomAD v4: 5-141573996-T-TGGAGGAGGA
• MyVariant Identifiers: chr5:g.140953564_140953572dup (hg19) ; chr5:g.140953569_140953570insGGAGGAGGA (hg19) ; chr5:g.140953563_140953564insGGAGGAGGA (hg19) ; chr5:g.141573997_141574005dup (hg38) ; chr5:g.141574002_141574003insGGAGGAGGA (hg38) ; chr5:g.141573996_141573997insGGAGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574022_141574030dup , CM000667.2:g.141574022_141574030dup	GRCh38
NC_000005.9:g.140953589_140953597dup , CM000667.1:g.140953589_140953597dup	GRCh37
NC_000005.8:g.140933773_140933781dup	NCBI36
NG_011594.1:g.50051_50059dup
NG_011594.2:g.50051_50059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1845_1853dup MANE Select	ENSP00000373706.4:p.Pro618_Pro619insProProPro
ENST00000647433.1:c.1845_1853dup	ENSP00000494675.1:p.Pro618_Pro619insProProPro
ENST00000253811.10:c.1713_1721dup	ENSP00000253811.7:p.Pro574_Pro575insProProPro
ENST00000389054.7:c.1845_1853dup	ENSP00000373706.4:p.Pro618_Pro619insProProPro
ENST00000389057.9:c.1818_1826dup	ENSP00000373709.6:p.Pro609_Pro610insProProPro
ENST00000398557.8:c.1845_1853dup	ENSP00000381565.5:p.Pro618_Pro619insProProPro
ENST00000518047.5:c.1818_1826dup	ENSP00000428268.2:p.Pro609_Pro610insProProPro
NM_001079812.2:c.1818_1826dup	NP_001073280.1:p.Pro609_Pro610insProProPro
NM_001314007.1:c.1845_1853dup	NP_001300936.1:p.Pro618_Pro619insProProPro
NM_005219.4:c.1845_1853dup	NP_005210.3:p.Pro618_Pro619insProProPro
XM_011537572.1:c.1809_1817dup	XP_011535874.1:p.Pro606_Pro607insProProPro
XM_011537573.1:c.1779_1787dup	XP_011535875.1:p.Pro596_Pro597insProProPro
XM_024454384.1:c.1845_1853dup	XP_024310152.1:p.Pro618_Pro619insProProPro
XM_024454385.1:c.1818_1826dup	XP_024310153.1:p.Pro609_Pro610insProProPro
XM_024454386.1:c.1809_1817dup	XP_024310154.1:p.Pro606_Pro607insProProPro
XM_024454387.1:c.1779_1787dup	XP_024310155.1:p.Pro596_Pro597insProProPro
NM_005219.5:c.1845_1853dup MANE Select	NP_005210.3:p.Pro618_Pro619insProProPro
NM_001079812.3:c.1818_1826dup	NP_001073280.1:p.Pro609_Pro610insProProPro
NM_001314007.2:c.1845_1853dup	NP_001300936.1:p.Pro618_Pro619insProProPro