Canonical Allele Identifier: CA2681992342
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880970-CATAATTTCTCTTTTGAAGCTATTATTGAAATAGCTGACACTATGTATGTATCTTCTGCCAAGTGTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880972_21881037del , CM000669.2:g.21880972_21881037del GRCh38
NC_000007.13:g.21920590_21920655del , CM000669.1:g.21920590_21920655del GRCh37
NC_000007.12:g.21887115_21887180del NCBI36
NG_012886.2:g.342758_342823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+79_12387+144del MANE Select ENSP00000475939.1:n.12387+79_12387+144del
ENST00000328843.10:c.12408+79_12408+144del ENSP00000330671.7:n.12408+79_12408+144del
ENST00000409508.7:c.12387+79_12387+144del ENSP00000475939.1:n.12387+79_12387+144del
ENST00000620169.4:c.12408+79_12408+144del ENSP00000481693.1:n.12408+79_12408+144del
NM_001277115.1:c.12387+79_12387+144del NP_001264044.1:n.12387+79_12387+144del
NM_001277115.2:c.12387+79_12387+144del MANE Select NP_001264044.1:n.12387+79_12387+144del
Search 100 bp 5'
Search 100 bp 3'