Canonical Allele Identifier: CA2839194959

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353606_52353607del , CM000665.2:g.52353606_52353607del	GRCh38
NC_000003.11:g.52387622_52387623del , CM000665.1:g.52387622_52387623del	GRCh37
NC_000003.10:g.52362662_52362663del	NCBI36
NG_052911.1:g.42288_42289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3453_3454del MANE Select	ENSP00000401514.2:p.Ala1152TrpfsTer?
ENST00000420323.6:c.3453_3454del	ENSP00000401514.2:p.Ala1152TrpfsTer?
ENST00000486752.5:n.3714_3715del
ENST00000497875.1:n.3618_3619del
NM_015512.4:c.3453_3454del	NP_056327.4:p.Ala1152TrpfsTer?
XM_011533577.1:c.3453_3454del	XP_011531879.1:p.Ala1152TrpfsTer?
XM_017006129.1:c.3453_3454del	XP_016861618.1:p.Ala1152TrpfsTer?
XM_017006130.1:c.3453_3454del	XP_016861619.1:p.Ala1152TrpfsTer?
XM_017006131.1:c.3453_3454del	XP_016861620.1:p.Ala1152TrpfsTer?
XM_017006132.1:c.3453_3454del	XP_016861621.1:p.Ala1152TrpfsTer?
XM_017006133.1:c.3453_3454del	XP_016861622.1:p.Ala1152TrpfsTer?
XR_001740098.1:n.6602_6603del
XR_001740099.1:n.6602_6603del
NM_015512.5:c.3453_3454del MANE Select	NP_056327.4:p.Ala1152TrpfsTer?