Canonical Allele Identifier: CA1099217062
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1786255967
gnomAD v3: 7-21748512-TAAACA-T
gnomAD v4: 7-21748512-TAAACA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748513_21748517del , CM000669.2:g.21748513_21748517del GRCh38
NC_000007.13:g.21788131_21788135del , CM000669.1:g.21788131_21788135del GRCh37
NC_000007.12:g.21754656_21754660del NCBI36
NG_012886.2:g.210299_210303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-67_8511-63del MANE Select ENSP00000475939.1:n.8511-67_8511-63del
ENST00000328843.10:c.8532-67_8532-63del ENSP00000330671.7:n.8532-67_8532-63del
ENST00000409508.7:c.8511-67_8511-63del ENSP00000475939.1:n.8511-67_8511-63del
ENST00000620169.4:c.8532-67_8532-63del ENSP00000481693.1:n.8532-67_8532-63del
NM_001277115.1:c.8511-67_8511-63del NP_001264044.1:n.8511-67_8511-63del
NM_001277115.2:c.8511-67_8511-63del MANE Select NP_001264044.1:n.8511-67_8511-63del
Search 100 bp 5'
Search 100 bp 3'