Canonical Allele Identifier: CA1139660961

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 977538
• ClinVar RCV Id: RCV001255242
• dbSNP Id: rs1825188115

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517332_34517339del , CM000671.2:g.34517332_34517339del	GRCh38
NC_000009.11:g.34517330_34517337del , CM000671.1:g.34517330_34517337del	GRCh37
NC_000009.10:g.34507330_34507337del	NCBI36
NG_008127.1:g.63520_63527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1866_1873del MANE Select	ENSP00000242317.4:p.Gln623GlyfsTer24
ENST00000242317.8:c.1866_1873del	ENSP00000242317.4:p.Gln623GlyfsTer24
ENST00000442556.1:c.329+2593_329+2600del
ENST00000470169.5:c.654_661del
ENST00000485580.1:n.442_449del
ENST00000614641.4:c.1878_1885del	ENSP00000480538.1:p.Gln627GlyfsTer24
NM_001281428.1:c.1878_1885del	NP_001268357.1:p.Gln627GlyfsTer24
NM_012144.3:c.1866_1873del	NP_036276.1:p.Gln623GlyfsTer24
XM_006716758.2:c.1335_1342del	XP_006716821.1:p.Gln446GlyfsTer24
XM_011517848.1:c.1620_1627del	XP_011516150.1:p.Gln541GlyfsTer24
XM_006716758.3:c.1335_1342del	XP_006716821.1:p.Gln446GlyfsTer24
XM_011517848.2:c.1620_1627del	XP_011516150.1:p.Gln541GlyfsTer24
XM_017014625.2:c.1608_1615del	XP_016870114.1:p.Gln537GlyfsTer24
XR_002956774.1:n.1969_1976del
NM_012144.4:c.1866_1873del MANE Select	NP_036276.1:p.Gln623GlyfsTer24
NM_001281428.2:c.1878_1885del	NP_001268357.1:p.Gln627GlyfsTer24