Canonical Allele Identifier: CA1364817281

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353566_52353567delinsTG , CM000665.2:g.52353566_52353567delinsTG	GRCh38
NC_000003.11:g.52387582_52387583delinsTG , CM000665.1:g.52387582_52387583delinsTG	GRCh37
NC_000003.10:g.52362622_52362623delinsTG	NCBI36
NG_052911.1:g.42248_42249delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3413_3414delinsTG MANE Select	ENSP00000401514.2:p.Leu1138=
ENST00000420323.6:c.3413_3414delinsTG	ENSP00000401514.2:p.Leu1138=
ENST00000486752.5:n.3674_3675delinsTG
ENST00000497875.1:n.3578_3579delinsTG
NM_015512.4:c.3413_3414delinsTG	NP_056327.4:p.Leu1138=
XM_011533577.1:c.3413_3414delinsTG	XP_011531879.1:p.Leu1138=
XM_017006129.1:c.3413_3414delinsTG	XP_016861618.1:p.Leu1138=
XM_017006130.1:c.3413_3414delinsTG	XP_016861619.1:p.Leu1138=
XM_017006131.1:c.3413_3414delinsTG	XP_016861620.1:p.Leu1138=
XM_017006132.1:c.3413_3414delinsTG	XP_016861621.1:p.Leu1138=
XM_017006133.1:c.3413_3414delinsTG	XP_016861622.1:p.Leu1138=
XR_001740098.1:n.6562_6563delinsTG
XR_001740099.1:n.6562_6563delinsTG
NM_015512.5:c.3413_3414delinsTG MANE Select	NP_056327.4:p.Leu1138=