Canonical Allele Identifier: CA2774682460

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880819_21880820insCTTCTGGACTCAA , CM000669.2:g.21880819_21880820insCTTCTGGACTCAA	GRCh38
NC_000007.13:g.21920437_21920438insCTTCTGGACTCAA , CM000669.1:g.21920437_21920438insCTTCTGGACTCAA	GRCh37
NC_000007.12:g.21886962_21886963insCTTCTGGACTCAA	NCBI36
NG_012886.2:g.342605_342606insCTTCTGGACTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12313_12314insCTTCTGGACTCAA MANE Select	ENSP00000475939.1:p.Ser4105ThrfsTer9
ENST00000328843.10:c.12334_12335insCTTCTGGACTCAA	ENSP00000330671.7:p.Ser4112ThrfsTer9
ENST00000409508.7:c.12313_12314insCTTCTGGACTCAA	ENSP00000475939.1:p.Ser4105ThrfsTer9
ENST00000620169.4:c.12334_12335insCTTCTGGACTCAA	ENSP00000481693.1:p.Ser4112ThrfsTer9
NM_001277115.1:c.12313_12314insCTTCTGGACTCAA	NP_001264044.1:p.Ser4105ThrfsTer9
NM_001277115.2:c.12313_12314insCTTCTGGACTCAA MANE Select	NP_001264044.1:p.Ser4105ThrfsTer9