Canonical Allele Identifier: CA2838746025

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353572dup , CM000665.2:g.52353572dup	GRCh38
NC_000003.11:g.52387588dup , CM000665.1:g.52387588dup	GRCh37
NC_000003.10:g.52362628dup	NCBI36
NG_052911.1:g.42254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3419dup MANE Select	ENSP00000401514.2:p.Asp1140GlufsTer11
ENST00000420323.6:c.3419dup	ENSP00000401514.2:p.Asp1140GlufsTer11
ENST00000486752.5:n.3680dup
ENST00000497875.1:n.3584dup
NM_015512.4:c.3419dup	NP_056327.4:p.Asp1140GlufsTer11
XM_011533577.1:c.3419dup	XP_011531879.1:p.Asp1140GlufsTer11
XM_017006129.1:c.3419dup	XP_016861618.1:p.Asp1140GlufsTer11
XM_017006130.1:c.3419dup	XP_016861619.1:p.Asp1140GlufsTer11
XM_017006131.1:c.3419dup	XP_016861620.1:p.Asp1140GlufsTer11
XM_017006132.1:c.3419dup	XP_016861621.1:p.Asp1140GlufsTer11
XM_017006133.1:c.3419dup	XP_016861622.1:p.Asp1140GlufsTer11
XR_001740098.1:n.6568dup
XR_001740099.1:n.6568dup
NM_015512.5:c.3419dup MANE Select	NP_056327.4:p.Asp1140GlufsTer11