Canonical Allele Identifier: CA1845610443

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514466_34514467delinsTG , CM000671.2:g.34514466_34514467delinsTG	GRCh38
NC_000009.11:g.34514464_34514465delinsTG , CM000671.1:g.34514464_34514465delinsTG	GRCh37
NC_000009.10:g.34504464_34504465delinsTG	NCBI36
NG_008127.1:g.60654_60655delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1642_1643delinsTG MANE Select	ENSP00000242317.4:p.Trp548=
ENST00000242317.8:c.1642_1643delinsTG	ENSP00000242317.4:p.Trp548=
ENST00000442556.1:c.153_154delinsTG
ENST00000470169.5:c.507-174_507-173delinsTG
ENST00000485580.1:n.121_122delinsTG
ENST00000614641.4:c.1654_1655delinsTG	ENSP00000480538.1:p.Trp552=
NM_001281428.1:c.1654_1655delinsTG	NP_001268357.1:p.Trp552=
NM_012144.3:c.1642_1643delinsTG	NP_036276.1:p.Trp548=
XM_006716758.2:c.1111_1112delinsTG	XP_006716821.1:p.Trp371=
XM_011517846.1:c.1654_1655delinsTG	XP_011516148.1:p.Trp552=
XM_011517847.1:c.1654_1655delinsTG	XP_011516149.1:p.Trp552=
XM_011517848.1:c.1396_1397delinsTG	XP_011516150.1:p.Trp466=
XM_011517849.1:c.1582-38_1582-37delinsTG	XP_011516151.1:n.1582-38_1582-37delinsTG
XR_929232.1:n.1836-38_1836-37delinsTG
XR_929233.1:n.1836-38_1836-37delinsTG
XR_929235.1:n.1578-38_1578-37delinsTG
XM_006716758.3:c.1111_1112delinsTG	XP_006716821.1:p.Trp371=
XM_011517846.2:c.1654_1655delinsTG	XP_011516148.1:p.Trp552=
XM_011517847.3:c.1654_1655delinsTG	XP_011516149.1:p.Trp552=
XM_011517848.2:c.1396_1397delinsTG	XP_011516150.1:p.Trp466=
XM_011517849.2:c.1582-38_1582-37delinsTG	XP_011516151.1:n.1582-38_1582-37delinsTG
XM_017014625.2:c.1384_1385delinsTG	XP_016870114.1:p.Trp462=
XR_002956774.1:n.1783-38_1783-37delinsTG
XR_929232.2:n.1783-38_1783-37delinsTG
XR_929233.2:n.1783-38_1783-37delinsTG
NM_012144.4:c.1642_1643delinsTG MANE Select	NP_036276.1:p.Trp548=
NM_001281428.2:c.1654_1655delinsTG	NP_001268357.1:p.Trp552=