Canonical Allele Identifier: CA2518463559

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21559208_21559209insAGCCTCCAAATTGCTGGGATTA , CM000669.2:g.21559208_21559209insAGCCTCCAAATTGCTGGGATTA	GRCh38
NC_000007.13:g.21598826_21598827insAGCCTCCAAATTGCTGGGATTA , CM000669.1:g.21598826_21598827insAGCCTCCAAATTGCTGGGATTA	GRCh37
NC_000007.12:g.21565351_21565352insAGCCTCCAAATTGCTGGGATTA	NCBI36
NG_012886.2:g.20994_20995insAGCCTCCAAATTGCTGGGATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA MANE Select	ENSP00000475939.1:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA
ENST00000328843.10:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA	ENSP00000330671.7:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA
ENST00000409508.7:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA	ENSP00000475939.1:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA
ENST00000620169.4:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA	ENSP00000481693.1:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA
NM_001277115.1:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA	NP_001264044.1:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA
NM_001277115.2:c.692+210_692+211insAGCCTCCAAATTGCTGGGATTA MANE Select	NP_001264044.1:n.692+210_692+211insAGCCTCCAAATTGCTGGGATTA