Canonical Allele Identifier: CA2573144568

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1365696
• ClinVar RCV Id: RCV001929928
• dbSNP Id: rs2132060982

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489325del , CM000671.2:g.34489325del	GRCh38
NC_000009.11:g.34489323del , CM000671.1:g.34489323del	GRCh37
NC_000009.10:g.34479323del	NCBI36
NG_008127.1:g.35513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.264del MANE Select	ENSP00000242317.4:p.Gly89AlafsTer9
ENST00000242317.8:c.264del	ENSP00000242317.4:p.Gly89AlafsTer9
ENST00000437363.5:c.231del	ENSP00000395396.1:p.Gly78AlafsTer9
ENST00000488369.1:n.380del
ENST00000614641.4:c.264del	ENSP00000480538.1:p.Gly89AlafsTer9
NM_001281428.1:c.264del	NP_001268357.1:p.Gly89AlafsTer9
NM_012144.3:c.264del	NP_036276.1:p.Gly89AlafsTer9
XM_011517846.1:c.264del	XP_011516148.1:p.Gly89AlafsTer9
XM_011517847.1:c.264del	XP_011516149.1:p.Gly89AlafsTer9
XM_011517848.1:c.264del	XP_011516150.1:p.Gly89AlafsTer9
XM_011517849.1:c.264del	XP_011516151.1:p.Gly89AlafsTer9
XM_011517850.1:c.264del	XP_011516152.1:p.Gly89AlafsTer9
XR_929232.1:n.518del
XR_929233.1:n.518del
XR_929235.1:n.518del
XM_006716758.3:c.-213del	XP_006716821.1:n.-213del
XM_011517846.2:c.264del	XP_011516148.1:p.Gly89AlafsTer9
XM_011517847.3:c.264del	XP_011516149.1:p.Gly89AlafsTer9
XM_011517848.2:c.264del	XP_011516150.1:p.Gly89AlafsTer9
XM_011517849.2:c.264del	XP_011516151.1:p.Gly89AlafsTer9
XM_011517850.3:c.264del	XP_011516152.1:p.Gly89AlafsTer9
XM_017014625.2:c.264del	XP_016870114.1:p.Gly89AlafsTer9
XR_002956774.1:n.465del
XR_929232.2:n.465del
XR_929233.2:n.465del
NM_012144.4:c.264del MANE Select	NP_036276.1:p.Gly89AlafsTer9
NM_001281428.2:c.264del	NP_001268357.1:p.Gly89AlafsTer9