Canonical Allele Identifier: CA719004117

Gene: DNAH3

Linked Data

• dbSNP Id: rs1346435631
• gnomAD v3: 16-21101842-GGGCCC-G
• gnomAD v4: 16-21101842-GGGCCC-G
• MyVariant Identifiers: chr16:g.21113164_21113168del (hg19) ; chr16:g.21101843_21101847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21101843_21101847del , CM000678.2:g.21101843_21101847del	GRCh38
NC_000016.9:g.21113164_21113168del , CM000678.1:g.21113164_21113168del	GRCh37
NC_000016.8:g.21020665_21020669del	NCBI36
NG_052617.1:g.62595_62599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698260.1:c.2228+2624_2228+2628del MANE Select	ENSP00000513632.1:n.2228+2624_2228+2628del
ENST00000685858.1:c.2408+2624_2408+2628del	ENSP00000508756.1:n.2408+2624_2408+2628del
ENST00000261383.3:c.2366+2624_2366+2628del	ENSP00000261383.3:n.2366+2624_2366+2628del
NM_017539.2:c.2366+2624_2366+2628del	NP_060009.1:n.2366+2624_2366+2628del
XM_006721062.1:c.2228+2624_2228+2628del	XP_006721125.1:n.2228+2624_2228+2628del
XM_011545882.1:c.2249+2624_2249+2628del	XP_011544184.1:n.2249+2624_2249+2628del
XM_011545883.1:c.2249+2624_2249+2628del	XP_011544185.1:n.2249+2624_2249+2628del
XM_011545884.1:c.2006+2624_2006+2628del	XP_011544186.1:n.2006+2624_2006+2628del
XM_011545885.1:c.2249+2624_2249+2628del	XP_011544187.1:n.2249+2624_2249+2628del
XM_011545886.1:c.1238+2624_1238+2628del	XP_011544188.1:n.1238+2624_1238+2628del
XM_011545887.1:c.446+2624_446+2628del	XP_011544189.1:n.446+2624_446+2628del
XM_011545890.1:c.2249+2624_2249+2628del	XP_011544192.1:n.2249+2624_2249+2628del
NM_001347886.1:c.2228+2624_2228+2628del	NP_001334815.1:n.2228+2624_2228+2628del
XM_011545882.2:c.2249+2624_2249+2628del	XP_011544184.1:n.2249+2624_2249+2628del
XM_011545885.3:c.2249+2624_2249+2628del	XP_011544187.1:n.2249+2624_2249+2628del
XM_011545886.2:c.1238+2624_1238+2628del	XP_011544188.1:n.1238+2624_1238+2628del
XM_017023426.1:c.2249+2624_2249+2628del	XP_016878915.1:n.2249+2624_2249+2628del
XM_017023427.1:c.2006+2624_2006+2628del	XP_016878916.1:n.2006+2624_2006+2628del
XM_017023428.1:c.2249+2624_2249+2628del	XP_016878917.1:n.2249+2624_2249+2628del
XM_017023429.1:c.2249+2624_2249+2628del	XP_016878918.1:n.2249+2624_2249+2628del
XM_017023431.1:c.2249+2624_2249+2628del	XP_016878920.1:n.2249+2624_2249+2628del
XM_017023432.1:c.2408+2624_2408+2628del	XP_016878921.1:n.2408+2624_2408+2628del
NM_001347886.2:c.2228+2624_2228+2628del MANE Select	NP_001334815.1:n.2228+2624_2228+2628del