Canonical Allele Identifier: CA2434124

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52363106_52363107del , CM000665.2:g.52363106_52363107del	GRCh38
NC_000003.11:g.52397122_52397123del , CM000665.1:g.52397122_52397123del	GRCh37
NC_000003.10:g.52372162_52372163del	NCBI36
NG_052911.1:g.51788_51789del

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.5206_5207del MANE Select	NP_056327.4:p.Thr1736HisfsTer7
ENST00000420323.7:c.5206_5207del MANE Select	ENSP00000401514.2:p.Thr1736HisfsTer7
NM_015512.4:c.5206_5207del	NP_056327.4:p.Thr1736HisfsTer7
ENST00000420323.6:c.5206_5207del	ENSP00000401514.2:p.Thr1736HisfsTer7
ENST00000486752.5:n.5467_5468del
XM_011533577.1:c.5206_5207del	XP_011531879.1:p.Thr1736HisfsTer7
XM_017006129.1:c.5206_5207del	XP_016861618.1:p.Thr1736HisfsTer7
XM_017006130.1:c.5206_5207del	XP_016861619.1:p.Thr1736HisfsTer7
XM_017006131.1:c.5206_5207del	XP_016861620.1:p.Thr1736HisfsTer7
XM_017006132.1:c.5206_5207del	XP_016861621.1:p.Thr1736HisfsTer7
XM_017006133.1:c.5206_5207del	XP_016861622.1:p.Thr1736HisfsTer7
XR_001740098.1:n.8355_8356del
XR_001740099.1:n.8355_8356del