Canonical Allele Identifier: CA4179975
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs747116832
ExAC: 7:21658706 T / TC
gnomAD v2: 7-21658706-T-TC
gnomAD v4: 7-21619088-T-TC
MyVariant Identifiers: chr7:g.21658707_21658708insC (hg19) chr7:g.21658706_21658707insC (hg19) chr7:g.21619089_21619090insC (hg38) chr7:g.21619088_21619089insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619093dup , CM000669.2:g.21619093dup GRCh38
NC_000007.13:g.21658711dup , CM000669.1:g.21658711dup GRCh37
NC_000007.12:g.21625236dup NCBI36
NG_012886.2:g.80879dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-7dup MANE Select ENSP00000475939.1:n.4255-7dup
ENST00000328843.10:c.4270-7dup ENSP00000330671.7:n.4270-7dup
ENST00000409508.7:c.4255-7dup ENSP00000475939.1:n.4255-7dup
ENST00000465593.1:n.281-7dup
ENST00000620169.4:c.4270-7dup ENSP00000481693.1:n.4270-7dup
NM_001277115.1:c.4255-7dup NP_001264044.1:n.4255-7dup
NM_001277115.2:c.4255-7dup MANE Select NP_001264044.1:n.4255-7dup
Search 100 bp 5'
Search 100 bp 3'