Canonical Allele Identifier: CA5034331

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506828_34506830del , CM000671.2:g.34506828_34506830del	GRCh38
NC_000009.11:g.34506826_34506828del , CM000671.1:g.34506826_34506828del	GRCh37
NC_000009.10:g.34496826_34496828del	NCBI36
NG_008127.1:g.53016_53018del

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1265_1267del MANE Select	NP_036276.1:p.Phe422del
ENST00000242317.9:c.1265_1267del MANE Select	ENSP00000242317.4:p.Phe422del
NM_001281428.1:c.1277_1279del	NP_001268357.1:p.Phe426del
NM_001281428.2:c.1277_1279del	NP_001268357.1:p.Phe426del
NM_012144.3:c.1265_1267del	NP_036276.1:p.Phe422del
ENST00000242317.8:c.1265_1267del	ENSP00000242317.4:p.Phe422del
ENST00000470169.5:c.202_204del
ENST00000614641.4:c.1277_1279del	ENSP00000480538.1:p.Phe426del
XM_006716758.2:c.734_736del	XP_006716821.1:p.Phe245del
XM_006716758.3:c.734_736del	XP_006716821.1:p.Phe245del
XM_011517846.1:c.1277_1279del	XP_011516148.1:p.Phe426del
XM_011517846.2:c.1277_1279del	XP_011516148.1:p.Phe426del
XM_011517847.1:c.1277_1279del	XP_011516149.1:p.Phe426del
XM_011517847.3:c.1277_1279del	XP_011516149.1:p.Phe426del
XM_011517848.1:c.1277_1279del	XP_011516150.1:p.Phe426del
XM_011517848.2:c.1277_1279del	XP_011516150.1:p.Phe426del
XM_011517849.1:c.1277_1279del	XP_011516151.1:p.Phe426del
XM_011517849.2:c.1277_1279del	XP_011516151.1:p.Phe426del
XM_011517850.1:c.1277_1279del	XP_011516152.1:p.Phe426del
XM_011517850.3:c.1277_1279del	XP_011516152.1:p.Phe426del
XM_017014625.2:c.1265_1267del	XP_016870114.1:p.Phe422del
XR_002956774.1:n.1478_1480del
XR_929232.1:n.1531_1533del
XR_929232.2:n.1478_1480del
XR_929233.1:n.1531_1533del
XR_929233.2:n.1478_1480del
XR_929235.1:n.1531_1533del