Canonical Allele Identifier: CA4182999
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs749321611
ExAC: 7:21920301 TTCTTC / T
gnomAD v2: 7-21920301-TTCTTC-T
gnomAD v4: 7-21880683-TTCTTC-T
MyVariant Identifiers: chr7:g.21920302_21920306del (hg19) chr7:g.21880684_21880688del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880688_21880692del , CM000669.2:g.21880688_21880692del GRCh38
NC_000007.13:g.21920306_21920310del , CM000669.1:g.21920306_21920310del GRCh37
NC_000007.12:g.21886831_21886835del NCBI36
NG_012886.2:g.342474_342478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12196-14_12196-10del MANE Select ENSP00000475939.1:n.12196-14_12196-10del
ENST00000328843.10:c.12217-14_12217-10del ENSP00000330671.7:n.12217-14_12217-10del
ENST00000409508.7:c.12196-14_12196-10del ENSP00000475939.1:n.12196-14_12196-10del
ENST00000620169.4:c.12217-14_12217-10del ENSP00000481693.1:n.12217-14_12217-10del
NM_001277115.1:c.12196-14_12196-10del NP_001264044.1:n.12196-14_12196-10del
NM_001277115.2:c.12196-14_12196-10del MANE Select NP_001264044.1:n.12196-14_12196-10del
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