Canonical Allele Identifier: CA253532
Gene: DNAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5605
ClinVar RCV Id: RCV000005955
dbSNP Id: rs606231164

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34489343_34489344insAATA , CM000671.2:g.34489343_34489344insAATA GRCh38
NC_000009.11:g.34489341_34489342insAATA , CM000671.1:g.34489341_34489342insAATA GRCh37
NC_000009.10:g.34479341_34479342insAATA NCBI36
NG_008127.1:g.35531_35532insAATA

Transcript Alleles

HGVS Amino-acid change
ENST00000242317.9:c.282_283insAATA MANE Select ENSP00000242317.4:p.Gly95AsnfsTer24
ENST00000242317.8:c.282_283insAATA ENSP00000242317.4:p.Gly95AsnfsTer24
ENST00000437363.5:c.249_250insAATA ENSP00000395396.1:p.Gly84AsnfsTer24
ENST00000488369.1:n.398_399insAATA
ENST00000614641.4:c.282_283insAATA ENSP00000480538.1:p.Gly95AsnfsTer24
NM_001281428.1:c.282_283insAATA NP_001268357.1:p.Gly95AsnfsTer24
NM_012144.3:c.282_283insAATA NP_036276.1:p.Gly95AsnfsTer24
XM_011517846.1:c.282_283insAATA XP_011516148.1:p.Gly95AsnfsTer24
XM_011517847.1:c.282_283insAATA XP_011516149.1:p.Gly95AsnfsTer24
XM_011517848.1:c.282_283insAATA XP_011516150.1:p.Gly95AsnfsTer24
XM_011517849.1:c.282_283insAATA XP_011516151.1:p.Gly95AsnfsTer24
XM_011517850.1:c.282_283insAATA XP_011516152.1:p.Gly95AsnfsTer24
XR_929232.1:n.536_537insAATA
XR_929233.1:n.536_537insAATA
XR_929235.1:n.536_537insAATA
XM_006716758.3:c.-195_-194insAATA XP_006716821.1:n.-195_-194insAATA
XM_011517846.2:c.282_283insAATA XP_011516148.1:p.Gly95AsnfsTer24
XM_011517847.3:c.282_283insAATA XP_011516149.1:p.Gly95AsnfsTer24
XM_011517848.2:c.282_283insAATA XP_011516150.1:p.Gly95AsnfsTer24
XM_011517849.2:c.282_283insAATA XP_011516151.1:p.Gly95AsnfsTer24
XM_011517850.3:c.282_283insAATA XP_011516152.1:p.Gly95AsnfsTer24
XM_017014625.2:c.282_283insAATA XP_016870114.1:p.Gly95AsnfsTer24
XR_002956774.1:n.483_484insAATA
XR_929232.2:n.483_484insAATA
XR_929233.2:n.483_484insAATA
NM_012144.4:c.282_283insAATA MANE Select NP_036276.1:p.Gly95AsnfsTer24
NM_001281428.2:c.282_283insAATA NP_001268357.1:p.Gly95AsnfsTer24