Canonical Allele Identifier: CA2689798633

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517209-GTCCAGGGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517212_34517220del , CM000671.2:g.34517212_34517220del	GRCh38
NC_000009.11:g.34517210_34517218del , CM000671.1:g.34517210_34517218del	GRCh37
NC_000009.10:g.34507210_34507218del	NCBI36
NG_008127.1:g.63400_63408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-73_1819-65del MANE Select	ENSP00000242317.4:n.1819-73_1819-65del
ENST00000242317.8:c.1819-73_1819-65del	ENSP00000242317.4:n.1819-73_1819-65del
ENST00000442556.1:c.329+2473_329+2481del
ENST00000470169.5:c.607-73_607-65del
ENST00000485580.1:n.395-73_395-65del
ENST00000614641.4:c.1831-73_1831-65del	ENSP00000480538.1:n.1831-73_1831-65del
NM_001281428.1:c.1831-73_1831-65del	NP_001268357.1:n.1831-73_1831-65del
NM_012144.3:c.1819-73_1819-65del	NP_036276.1:n.1819-73_1819-65del
XM_006716758.2:c.1288-73_1288-65del	XP_006716821.1:n.1288-73_1288-65del
XM_011517847.1:c.1848_1856del	XP_011516149.1:p.Arg617_Ser619del
XM_011517848.1:c.1573-73_1573-65del	XP_011516150.1:n.1573-73_1573-65del
XR_929233.1:n.1992_2000del
XM_006716758.3:c.1288-73_1288-65del	XP_006716821.1:n.1288-73_1288-65del
XM_011517847.3:c.1848_1856del	XP_011516149.1:p.Arg617_Ser619del
XM_011517848.2:c.1573-73_1573-65del	XP_011516150.1:n.1573-73_1573-65del
XM_017014625.2:c.1561-73_1561-65del	XP_016870114.1:n.1561-73_1561-65del
XR_002956774.1:n.1922-73_1922-65del
XR_929233.2:n.1939_1947del
NM_012144.4:c.1819-73_1819-65del MANE Select	NP_036276.1:n.1819-73_1819-65del
NM_001281428.2:c.1831-73_1831-65del	NP_001268357.1:n.1831-73_1831-65del