Canonical Allele Identifier: CA1693539325
Gene: DNAH11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558894_21558897delinsAAAG , CM000669.2:g.21558894_21558897delinsAAAG GRCh38
NC_000007.13:g.21598512_21598515delinsAAAG , CM000669.1:g.21598512_21598515delinsAAAG GRCh37
NC_000007.12:g.21565037_21565040delinsAAAG NCBI36
NG_012886.2:g.20680_20683delinsAAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.588_591delinsAAAG MANE Select ENSP00000475939.1:p.Lys196=
ENST00000328843.10:c.588_591delinsAAAG ENSP00000330671.7:p.Lys196=
ENST00000409508.7:c.588_591delinsAAAG ENSP00000475939.1:p.Lys196=
ENST00000620169.4:c.588_591delinsAAAG ENSP00000481693.1:p.Lys196=
NM_001277115.1:c.588_591delinsAAAG NP_001264044.1:p.Lys196=
NM_001277115.2:c.588_591delinsAAAG MANE Select NP_001264044.1:p.Lys196=