Canonical Allele Identifier: CA2689798573

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517145-CCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517152_34517155del , CM000671.2:g.34517152_34517155del	GRCh38
NC_000009.11:g.34517150_34517153del , CM000671.1:g.34517150_34517153del	GRCh37
NC_000009.10:g.34507150_34507153del	NCBI36
NG_008127.1:g.63340_63343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-133_1819-130del MANE Select	ENSP00000242317.4:n.1819-133_1819-130del
ENST00000242317.8:c.1819-133_1819-130del	ENSP00000242317.4:n.1819-133_1819-130del
ENST00000442556.1:c.329+2413_329+2416del
ENST00000470169.5:c.607-133_607-130del
ENST00000485580.1:n.395-133_395-130del
ENST00000614641.4:c.1831-133_1831-130del	ENSP00000480538.1:n.1831-133_1831-130del
NM_001281428.1:c.1831-133_1831-130del	NP_001268357.1:n.1831-133_1831-130del
NM_012144.3:c.1819-133_1819-130del	NP_036276.1:n.1819-133_1819-130del
XM_006716758.2:c.1288-133_1288-130del	XP_006716821.1:n.1288-133_1288-130del
XM_011517847.1:c.1831-43_1831-40del	XP_011516149.1:n.1831-43_1831-40del
XM_011517848.1:c.1573-133_1573-130del	XP_011516150.1:n.1573-133_1573-130del
XR_929233.1:n.1975-43_1975-40del
XM_006716758.3:c.1288-133_1288-130del	XP_006716821.1:n.1288-133_1288-130del
XM_011517847.3:c.1831-43_1831-40del	XP_011516149.1:n.1831-43_1831-40del
XM_011517848.2:c.1573-133_1573-130del	XP_011516150.1:n.1573-133_1573-130del
XM_017014625.2:c.1561-133_1561-130del	XP_016870114.1:n.1561-133_1561-130del
XR_002956774.1:n.1922-133_1922-130del
XR_929233.2:n.1922-43_1922-40del
NM_012144.4:c.1819-133_1819-130del MANE Select	NP_036276.1:n.1819-133_1819-130del
NM_001281428.2:c.1831-133_1831-130del	NP_001268357.1:n.1831-133_1831-130del