Canonical Allele Identifier: CA4178719
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 654383
ClinVar RCV Id: RCV000810342
dbSNP Id: rs752229419
ExAC: 7:21598512 AAAG / A
gnomAD v2: 7-21598512-AAAG-A
gnomAD v3: 7-21558894-AAAG-A
gnomAD v4: 7-21558894-AAAG-A
MyVariant Identifiers: chr7:g.21598513_21598515del (hg19) chr7:g.21558896_21558898del (hg38) chr7:g.21558895_21558897del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558899_21558901del , CM000669.2:g.21558899_21558901del GRCh38
NC_000007.13:g.21598517_21598519del , CM000669.1:g.21598517_21598519del GRCh37
NC_000007.12:g.21565042_21565044del NCBI36
NG_012886.2:g.20685_20687del

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.593_595del MANE Select ENSP00000475939.1:p.Lys198del
ENST00000328843.10:c.593_595del ENSP00000330671.7:p.Lys198del
ENST00000409508.7:c.593_595del ENSP00000475939.1:p.Lys198del
ENST00000620169.4:c.593_595del ENSP00000481693.1:p.Lys198del
NM_001277115.1:c.593_595del NP_001264044.1:p.Lys198del
NM_001277115.2:c.593_595del MANE Select NP_001264044.1:p.Lys198del
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