Canonical Allele Identifier: CA2739269222

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2834078
• ClinVar RCV Id: RCV003651247

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506802del , CM000671.2:g.34506802del	GRCh38
NC_000009.11:g.34506800del , CM000671.1:g.34506800del	GRCh37
NC_000009.10:g.34496800del	NCBI36
NG_008127.1:g.52990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1239del MANE Select	ENSP00000242317.4:p.Lys414ArgfsTer?
ENST00000242317.8:c.1239del	ENSP00000242317.4:p.Lys414ArgfsTer?
ENST00000470169.5:c.176del
ENST00000614641.4:c.1251del	ENSP00000480538.1:p.Lys418ArgfsTer?
NM_001281428.1:c.1251del	NP_001268357.1:p.Lys418ArgfsTer?
NM_012144.3:c.1239del	NP_036276.1:p.Lys414ArgfsTer?
XM_006716758.2:c.708del	XP_006716821.1:p.Lys237ArgfsTer?
XM_011517846.1:c.1251del	XP_011516148.1:p.Lys418ArgfsTer?
XM_011517847.1:c.1251del	XP_011516149.1:p.Lys418ArgfsTer?
XM_011517848.1:c.1251del	XP_011516150.1:p.Lys418ArgfsTer?
XM_011517849.1:c.1251del	XP_011516151.1:p.Lys418ArgfsTer?
XM_011517850.1:c.1251del	XP_011516152.1:p.Lys418ArgfsTer29
XR_929232.1:n.1505del
XR_929233.1:n.1505del
XR_929235.1:n.1505del
XM_006716758.3:c.708del	XP_006716821.1:p.Lys237ArgfsTer?
XM_011517846.2:c.1251del	XP_011516148.1:p.Lys418ArgfsTer?
XM_011517847.3:c.1251del	XP_011516149.1:p.Lys418ArgfsTer?
XM_011517848.2:c.1251del	XP_011516150.1:p.Lys418ArgfsTer?
XM_011517849.2:c.1251del	XP_011516151.1:p.Lys418ArgfsTer?
XM_011517850.3:c.1251del	XP_011516152.1:p.Lys418ArgfsTer29
XM_017014625.2:c.1239del	XP_016870114.1:p.Lys414ArgfsTer?
XR_002956774.1:n.1452del
XR_929232.2:n.1452del
XR_929233.2:n.1452del
NM_012144.4:c.1239del MANE Select	NP_036276.1:p.Lys414ArgfsTer?
NM_001281428.2:c.1251del	NP_001268357.1:p.Lys418ArgfsTer?