Canonical Allele Identifier: CA3202440

Gene: DNAH5

Linked Data

• dbSNP Id: rs755153838
• ExAC: 5:13769244 A / AC
• gnomAD v2: 5-13769244-A-AC
• gnomAD v4: 5-13769135-A-AC
• MyVariant Identifiers: chr5:g.13769244_13769245insC (hg19) ; chr5:g.13769135_13769136insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769137dup , CM000667.2:g.13769137dup	GRCh38
NC_000005.9:g.13769246dup , CM000667.1:g.13769246dup	GRCh37
NC_000005.8:g.13822246dup	NCBI36
NG_013081.1:g.180345dup
NG_013081.2:g.180345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721dup
ENST00000681290.1:c.9676dup
ENST00000265104.4:c.9721dup
ENST00000504001.3:n.433dup
NM_001369.2:c.9721dup
XM_005248262.2:c.9676dup
XM_005248262.3:c.9829dup
XM_017009177.1:c.9829dup
XM_017009178.1:c.8734dup
XM_017009179.2:c.8734dup
XM_017009180.1:c.9829dup
XM_017009181.1:c.9829dup
XM_017009182.1:c.9829dup
XM_017009185.1:c.4918dup
XM_017009186.1:c.4471dup
XM_017009188.1:c.3808dup
XM_024454388.1:c.8734dup
XM_024454389.1:c.8323dup
NM_001369.3:c.9721dup