Canonical Allele Identifier: CA443254760

Gene: DNAH5

Linked Data

• dbSNP Id: rs1473645297
• gnomAD v2: 5-13769353-G-GT
• gnomAD v3: 5-13769244-G-GT
• gnomAD v4: 5-13769244-G-GT
• MyVariant Identifiers: chr5:g.13769353_13769354insT (hg19) ; chr5:g.13769244_13769245insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769246dup , CM000667.2:g.13769246dup	GRCh38
NC_000005.9:g.13769355dup , CM000667.1:g.13769355dup	GRCh37
NC_000005.8:g.13822355dup	NCBI36
NG_013081.1:g.180236dup
NG_013081.2:g.180236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-109dup MANE Select	ENSP00000265104.4:n.9721-109dup
ENST00000681290.1:c.9676-109dup	ENSP00000505288.1:n.9676-109dup
ENST00000265104.4:c.9721-109dup	ENSP00000265104.4:n.9721-109dup
ENST00000504001.3:n.433-109dup
NM_001369.2:c.9721-109dup	NP_001360.1:n.9721-109dup
XM_005248262.2:c.9676-109dup	XP_005248319.1:n.9676-109dup
XM_005248262.3:c.9829-109dup	XP_005248319.2:n.9829-109dup
XM_017009177.1:c.9829-109dup	XP_016864666.1:n.9829-109dup
XM_017009178.1:c.8734-109dup	XP_016864667.1:n.8734-109dup
XM_017009179.2:c.8734-109dup	XP_016864668.1:n.8734-109dup
XM_017009180.1:c.9829-109dup	XP_016864669.1:n.9829-109dup
XM_017009181.1:c.9829-109dup	XP_016864670.1:n.9829-109dup
XM_017009182.1:c.9829-109dup	XP_016864671.1:n.9829-109dup
XM_017009185.1:c.4918-109dup	XP_016864674.1:n.4918-109dup
XM_017009186.1:c.4471-109dup	XP_016864675.1:n.4471-109dup
XM_017009188.1:c.3808-109dup	XP_016864677.1:n.3808-109dup
XM_024454388.1:c.8734-109dup	XP_024310156.1:n.8734-109dup
XM_024454389.1:c.8323-109dup	XP_024310157.1:n.8323-109dup
NM_001369.3:c.9721-109dup MANE Select	NP_001360.1:n.9721-109dup