Canonical Allele Identifier: CA2580080384

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1990327
• ClinVar RCV Id: RCV002800829

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513120_34513124del , CM000671.2:g.34513120_34513124del	GRCh38
NC_000009.11:g.34513118_34513122del , CM000671.1:g.34513118_34513122del	GRCh37
NC_000009.10:g.34503118_34503122del	NCBI36
NG_008127.1:g.59308_59312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1498_1502del MANE Select	ENSP00000242317.4:p.Thr500LeufsTer2
ENST00000242317.8:c.1498_1502del	ENSP00000242317.4:p.Thr500LeufsTer2
ENST00000442556.1:c.9_13del
ENST00000470169.5:c.435_439del
ENST00000614641.4:c.1510_1514del	ENSP00000480538.1:p.Thr504LeufsTer2
NM_001281428.1:c.1510_1514del	NP_001268357.1:p.Thr504LeufsTer2
NM_012144.3:c.1498_1502del	NP_036276.1:p.Thr500LeufsTer2
XM_006716758.2:c.967_971del	XP_006716821.1:p.Thr323LeufsTer2
XM_011517846.1:c.1510_1514del	XP_011516148.1:p.Thr504LeufsTer2
XM_011517847.1:c.1510_1514del	XP_011516149.1:p.Thr504LeufsTer2
XM_011517848.1:c.1324-1274_1324-1270del	XP_011516150.1:n.1324-1274_1324-1270del
XM_011517849.1:c.1510_1514del	XP_011516151.1:p.Thr504LeufsTer2
XR_929232.1:n.1764_1768del
XR_929233.1:n.1764_1768del
XR_929235.1:n.1578-1384_1578-1380del
XM_006716758.3:c.967_971del	XP_006716821.1:p.Thr323LeufsTer2
XM_011517846.2:c.1510_1514del	XP_011516148.1:p.Thr504LeufsTer2
XM_011517847.3:c.1510_1514del	XP_011516149.1:p.Thr504LeufsTer2
XM_011517848.2:c.1324-1274_1324-1270del	XP_011516150.1:n.1324-1274_1324-1270del
XM_011517849.2:c.1510_1514del	XP_011516151.1:p.Thr504LeufsTer2
XM_017014625.2:c.1312-1274_1312-1270del	XP_016870114.1:n.1312-1274_1312-1270del
XR_002956774.1:n.1711_1715del
XR_929232.2:n.1711_1715del
XR_929233.2:n.1711_1715del
NM_012144.4:c.1498_1502del MANE Select	NP_036276.1:p.Thr500LeufsTer2
NM_001281428.2:c.1510_1514del	NP_001268357.1:p.Thr504LeufsTer2