Canonical Allele Identifier: CA1099217096
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1786256595
gnomAD v3: 7-21748521-CAGA-C
gnomAD v4: 7-21748521-CAGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748522_21748524del , CM000669.2:g.21748522_21748524del GRCh38
NC_000007.13:g.21788140_21788142del , CM000669.1:g.21788140_21788142del GRCh37
NC_000007.12:g.21754665_21754667del NCBI36
NG_012886.2:g.210308_210310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-58_8511-56del MANE Select ENSP00000475939.1:n.8511-58_8511-56del
ENST00000328843.10:c.8532-58_8532-56del ENSP00000330671.7:n.8532-58_8532-56del
ENST00000409508.7:c.8511-58_8511-56del ENSP00000475939.1:n.8511-58_8511-56del
ENST00000620169.4:c.8532-58_8532-56del ENSP00000481693.1:n.8532-58_8532-56del
NM_001277115.1:c.8511-58_8511-56del NP_001264044.1:n.8511-58_8511-56del
NM_001277115.2:c.8511-58_8511-56del MANE Select NP_001264044.1:n.8511-58_8511-56del
Search 100 bp 5'
Search 100 bp 3'