Canonical Allele Identifier: CA573292963
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1300982129
gnomAD v2: 7-21920370-TTC-T
gnomAD v4: 7-21880752-TTC-T
MyVariant Identifiers: chr7:g.21920371_21920372del (hg19) chr7:g.21880753_21880754del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880758_21880759del , CM000669.2:g.21880758_21880759del GRCh38
NC_000007.13:g.21920376_21920377del , CM000669.1:g.21920376_21920377del GRCh37
NC_000007.12:g.21886901_21886902del NCBI36
NG_012886.2:g.342544_342545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12252_12253del MANE Select ENSP00000475939.1:p.Cys4085LeufsTer24
ENST00000328843.10:c.12273_12274del ENSP00000330671.7:p.Cys4092LeufsTer24
ENST00000409508.7:c.12252_12253del ENSP00000475939.1:p.Cys4085LeufsTer24
ENST00000620169.4:c.12273_12274del ENSP00000481693.1:p.Cys4092LeufsTer24
NM_001277115.1:c.12252_12253del NP_001264044.1:p.Cys4085LeufsTer24
NM_001277115.2:c.12252_12253del MANE Select NP_001264044.1:p.Cys4085LeufsTer24
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