Canonical Allele Identifier: CA1845591255

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517201_34517210delinsCCCAGGAAGT , CM000671.2:g.34517201_34517210delinsCCCAGGAAGT	GRCh38
NC_000009.11:g.34517199_34517208delinsCCCAGGAAGT , CM000671.1:g.34517199_34517208delinsCCCAGGAAGT	GRCh37
NC_000009.10:g.34507199_34507208delinsCCCAGGAAGT	NCBI36
NG_008127.1:g.63389_63398delinsCCCAGGAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-84_1819-75delinsCCCAGGAAGT MANE Select	ENSP00000242317.4:n.1819-84_1819-75delinsCCCAGGAAGT
ENST00000242317.8:c.1819-84_1819-75delinsCCCAGGAAGT	ENSP00000242317.4:n.1819-84_1819-75delinsCCCAGGAAGT
ENST00000442556.1:c.329+2462_329+2471delinsCCCAGGAAGT
ENST00000470169.5:c.607-84_607-75delinsCCCAGGAAGT
ENST00000485580.1:n.395-84_395-75delinsCCCAGGAAGT
ENST00000614641.4:c.1831-84_1831-75delinsCCCAGGAAGT	ENSP00000480538.1:n.1831-84_1831-75delinsCCCAGGAAGT
NM_001281428.1:c.1831-84_1831-75delinsCCCAGGAAGT	NP_001268357.1:n.1831-84_1831-75delinsCCCAGGAAGT
NM_012144.3:c.1819-84_1819-75delinsCCCAGGAAGT	NP_036276.1:n.1819-84_1819-75delinsCCCAGGAAGT
XM_006716758.2:c.1288-84_1288-75delinsCCCAGGAAGT	XP_006716821.1:n.1288-84_1288-75delinsCCCAGGAAGT
XM_011517847.1:c.1837_1846delinsCCCAGGAAGT	XP_011516149.1:p.Pro613=
XM_011517848.1:c.1573-84_1573-75delinsCCCAGGAAGT	XP_011516150.1:n.1573-84_1573-75delinsCCCAGGAAGT
XR_929233.1:n.1981_1990delinsCCCAGGAAGT
XM_006716758.3:c.1288-84_1288-75delinsCCCAGGAAGT	XP_006716821.1:n.1288-84_1288-75delinsCCCAGGAAGT
XM_011517847.3:c.1837_1846delinsCCCAGGAAGT	XP_011516149.1:p.Pro613=
XM_011517848.2:c.1573-84_1573-75delinsCCCAGGAAGT	XP_011516150.1:n.1573-84_1573-75delinsCCCAGGAAGT
XM_017014625.2:c.1561-84_1561-75delinsCCCAGGAAGT	XP_016870114.1:n.1561-84_1561-75delinsCCCAGGAAGT
XR_002956774.1:n.1922-84_1922-75delinsCCCAGGAAGT
XR_929233.2:n.1928_1937delinsCCCAGGAAGT
NM_012144.4:c.1819-84_1819-75delinsCCCAGGAAGT MANE Select	NP_036276.1:n.1819-84_1819-75delinsCCCAGGAAGT
NM_001281428.2:c.1831-84_1831-75delinsCCCAGGAAGT	NP_001268357.1:n.1831-84_1831-75delinsCCCAGGAAGT