Canonical Allele Identifier: CA5034486

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2829913
• ClinVar RCV Id: RCV003651151
• dbSNP Id: rs748929117
• ExAC: 9:34514456 CTG / C
• gnomAD v2: 9-34514456-CTG-C
• MyVariant Identifiers: chr9:g.34514457_34514458del (hg19) ; chr9:g.34514459_34514460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514462_34514463del , CM000671.2:g.34514462_34514463del	GRCh38
NC_000009.11:g.34514460_34514461del , CM000671.1:g.34514460_34514461del	GRCh37
NC_000009.10:g.34504460_34504461del	NCBI36
NG_008127.1:g.60650_60651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1638_1639del MANE Select	ENSP00000242317.4:p.Ser547LeufsTer?
ENST00000242317.8:c.1638_1639del	ENSP00000242317.4:p.Ser547LeufsTer?
ENST00000442556.1:c.149_150del
ENST00000470169.5:c.507-178_507-177del
ENST00000485580.1:n.117_118del
ENST00000614641.4:c.1650_1651del	ENSP00000480538.1:p.Ser551LeufsTer?
NM_001281428.1:c.1650_1651del	NP_001268357.1:p.Ser551LeufsTer?
NM_012144.3:c.1638_1639del	NP_036276.1:p.Ser547LeufsTer?
XM_006716758.2:c.1107_1108del	XP_006716821.1:p.Ser370LeufsTer?
XM_011517846.1:c.1650_1651del	XP_011516148.1:p.Ser551LeufsTer?
XM_011517847.1:c.1650_1651del	XP_011516149.1:p.Ser551LeufsTer?
XM_011517848.1:c.1392_1393del	XP_011516150.1:p.Ser465LeufsTer?
XM_011517849.1:c.1582-42_1582-41del	XP_011516151.1:n.1582-42_1582-41del
XR_929232.1:n.1836-42_1836-41del
XR_929233.1:n.1836-42_1836-41del
XR_929235.1:n.1578-42_1578-41del
XM_006716758.3:c.1107_1108del	XP_006716821.1:p.Ser370LeufsTer?
XM_011517846.2:c.1650_1651del	XP_011516148.1:p.Ser551LeufsTer?
XM_011517847.3:c.1650_1651del	XP_011516149.1:p.Ser551LeufsTer?
XM_011517848.2:c.1392_1393del	XP_011516150.1:p.Ser465LeufsTer?
XM_011517849.2:c.1582-42_1582-41del	XP_011516151.1:n.1582-42_1582-41del
XM_017014625.2:c.1380_1381del	XP_016870114.1:p.Ser461LeufsTer?
XR_002956774.1:n.1783-42_1783-41del
XR_929232.2:n.1783-42_1783-41del
XR_929233.2:n.1783-42_1783-41del
NM_012144.4:c.1638_1639del MANE Select	NP_036276.1:p.Ser547LeufsTer?
NM_001281428.2:c.1650_1651del	NP_001268357.1:p.Ser551LeufsTer?