Canonical Allele Identifier: CA4183043
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs748356037
ExAC: 7:21920490 CT / C
gnomAD v2: 7-21920490-CT-C
gnomAD v4: 7-21880872-CT-C
MyVariant Identifiers: chr7:g.21920491del (hg19) chr7:g.21880873del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880873del , CM000669.2:g.21880873del GRCh38
NC_000007.13:g.21920491del , CM000669.1:g.21920491del GRCh37
NC_000007.12:g.21887016del NCBI36
NG_012886.2:g.342659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12367del MANE Select ENSP00000475939.1:p.Tyr4123ThrfsTer2
ENST00000328843.10:c.12388del ENSP00000330671.7:p.Tyr4130ThrfsTer2
ENST00000409508.7:c.12367del ENSP00000475939.1:p.Tyr4123ThrfsTer2
ENST00000620169.4:c.12388del ENSP00000481693.1:p.Tyr4130ThrfsTer2
NM_001277115.1:c.12367del NP_001264044.1:p.Tyr4123ThrfsTer2
NM_001277115.2:c.12367del MANE Select NP_001264044.1:p.Tyr4123ThrfsTer2
Search 100 bp 5'
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