Canonical Allele Identifier: CA572927357
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1562601091
gnomAD v2: 7-21920862-AT-A
gnomAD v3: 7-21881244-AT-A
gnomAD v4: 7-21881244-AT-A
MyVariant Identifiers: chr7:g.21920863del (hg19) chr7:g.21881245del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21881246del , CM000669.2:g.21881246del GRCh38
NC_000007.13:g.21920864del , CM000669.1:g.21920864del GRCh37
NC_000007.12:g.21887389del NCBI36
NG_012886.2:g.343032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+353del MANE Select ENSP00000475939.1:n.12387+353del
ENST00000328843.10:c.12408+353del ENSP00000330671.7:n.12408+353del
ENST00000409508.7:c.12387+353del ENSP00000475939.1:n.12387+353del
ENST00000620169.4:c.12408+353del ENSP00000481693.1:n.12408+353del
NM_001277115.1:c.12387+353del NP_001264044.1:n.12387+353del
NM_001277115.2:c.12387+353del MANE Select NP_001264044.1:n.12387+353del
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