Canonical Allele Identifier: CA4179452
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs764168159
ExAC: 7:21639576 CA / C
gnomAD v2: 7-21639576-CA-C
gnomAD v4: 7-21599958-CA-C
MyVariant Identifiers: chr7:g.21639577del (hg19) chr7:g.21599959del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599961del , CM000669.2:g.21599961del GRCh38
NC_000007.13:g.21639579del , CM000669.1:g.21639579del GRCh37
NC_000007.12:g.21606104del NCBI36
NG_012886.2:g.61747del

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2842del MANE Select ENSP00000475939.1:p.Met948Ter
ENST00000328843.10:c.2842del ENSP00000330671.7:p.Met948Ter
ENST00000409508.7:c.2842del ENSP00000475939.1:p.Met948Ter
ENST00000620169.4:c.2842del ENSP00000481693.1:p.Met948Ter
NM_001277115.1:c.2842del NP_001264044.1:p.Met948Ter
NM_001277115.2:c.2842del MANE Select NP_001264044.1:p.Met948Ter
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