Canonical Allele Identifier: CA1123116690

Gene: DNAI1

Linked Data

• gnomAD v3: 9-34517251-ACCCC-A
• gnomAD v4: 9-34517251-ACCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517252_34517255del , CM000671.2:g.34517252_34517255del	GRCh38
NC_000009.11:g.34517250_34517253del , CM000671.1:g.34517250_34517253del	GRCh37
NC_000009.10:g.34507250_34507253del	NCBI36
NG_008127.1:g.63440_63443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-33_1819-30del MANE Select	ENSP00000242317.4:n.1819-33_1819-30del
ENST00000242317.8:c.1819-33_1819-30del	ENSP00000242317.4:n.1819-33_1819-30del
ENST00000442556.1:c.329+2513_329+2516del
ENST00000470169.5:c.607-33_607-30del
ENST00000485580.1:n.395-33_395-30del
ENST00000614641.4:c.1831-33_1831-30del	ENSP00000480538.1:n.1831-33_1831-30del
NM_001281428.1:c.1831-33_1831-30del	NP_001268357.1:n.1831-33_1831-30del
NM_012144.3:c.1819-33_1819-30del	NP_036276.1:n.1819-33_1819-30del
XM_006716758.2:c.1288-33_1288-30del	XP_006716821.1:n.1288-33_1288-30del
XM_011517847.1:c.*22_*25del	XP_011516149.1:n.*22_*25del
XM_011517848.1:c.1573-33_1573-30del	XP_011516150.1:n.1573-33_1573-30del
XR_929233.1:n.2032_2035del
XM_006716758.3:c.1288-33_1288-30del	XP_006716821.1:n.1288-33_1288-30del
XM_011517847.3:c.*22_*25del	XP_011516149.1:n.*22_*25del
XM_011517848.2:c.1573-33_1573-30del	XP_011516150.1:n.1573-33_1573-30del
XM_017014625.2:c.1561-33_1561-30del	XP_016870114.1:n.1561-33_1561-30del
XR_002956774.1:n.1922-33_1922-30del
XR_929233.2:n.1979_1982del
NM_012144.4:c.1819-33_1819-30del MANE Select	NP_036276.1:n.1819-33_1819-30del
NM_001281428.2:c.1831-33_1831-30del	NP_001268357.1:n.1831-33_1831-30del