Canonical Allele Identifier: CA2841489716

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506841dup , CM000671.2:g.34506841dup	GRCh38
NC_000009.11:g.34506839dup , CM000671.1:g.34506839dup	GRCh37
NC_000009.10:g.34496839dup	NCBI36
NG_008127.1:g.53029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1278dup MANE Select	ENSP00000242317.4:p.Lys427GlnfsTer18
ENST00000242317.8:c.1278dup	ENSP00000242317.4:p.Lys427GlnfsTer18
ENST00000470169.5:c.215dup
ENST00000614641.4:c.1290dup	ENSP00000480538.1:p.Lys431GlnfsTer18
NM_001281428.1:c.1290dup	NP_001268357.1:p.Lys431GlnfsTer18
NM_012144.3:c.1278dup	NP_036276.1:p.Lys427GlnfsTer18
XM_006716758.2:c.747dup	XP_006716821.1:p.Lys250GlnfsTer18
XM_011517846.1:c.1290dup	XP_011516148.1:p.Lys431GlnfsTer18
XM_011517847.1:c.1290dup	XP_011516149.1:p.Lys431GlnfsTer18
XM_011517848.1:c.1290dup	XP_011516150.1:p.Lys431GlnfsTer14
XM_011517849.1:c.1290dup	XP_011516151.1:p.Lys431GlnfsTer18
XM_011517850.1:c.1290dup	XP_011516152.1:p.Lys431GlnfsTer?
XR_929232.1:n.1544dup
XR_929233.1:n.1544dup
XR_929235.1:n.1544dup
XM_006716758.3:c.747dup	XP_006716821.1:p.Lys250GlnfsTer18
XM_011517846.2:c.1290dup	XP_011516148.1:p.Lys431GlnfsTer18
XM_011517847.3:c.1290dup	XP_011516149.1:p.Lys431GlnfsTer18
XM_011517848.2:c.1290dup	XP_011516150.1:p.Lys431GlnfsTer14
XM_011517849.2:c.1290dup	XP_011516151.1:p.Lys431GlnfsTer18
XM_011517850.3:c.1290dup	XP_011516152.1:p.Lys431GlnfsTer?
XM_017014625.2:c.1278dup	XP_016870114.1:p.Lys427GlnfsTer14
XR_002956774.1:n.1491dup
XR_929232.2:n.1491dup
XR_929233.2:n.1491dup
NM_012144.4:c.1278dup MANE Select	NP_036276.1:p.Lys427GlnfsTer18
NM_001281428.2:c.1290dup	NP_001268357.1:p.Lys431GlnfsTer18