Canonical Allele Identifier: CA1693537972
Gene: DNAH11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543350_21543353delinsCGAG , CM000669.2:g.21543350_21543353delinsCGAG GRCh38
NC_000007.13:g.21582968_21582971delinsCGAG , CM000669.1:g.21582968_21582971delinsCGAG GRCh37
NC_000007.12:g.21549493_21549496delinsCGAG NCBI36
NG_012886.2:g.5136_5139delinsCGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.105_108delinsCGAG MANE Select ENSP00000475939.1:p.Leu35=
ENST00000328843.10:c.105_108delinsCGAG ENSP00000330671.7:p.Leu35=
ENST00000409508.7:c.105_108delinsCGAG ENSP00000475939.1:p.Leu35=
ENST00000620169.4:c.105_108delinsCGAG ENSP00000481693.1:p.Leu35=
NM_001277115.1:c.105_108delinsCGAG NP_001264044.1:p.Leu35=
NM_001277115.2:c.105_108delinsCGAG MANE Select NP_001264044.1:p.Leu35=