Canonical Allele Identifier: CA3202149

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1458248
• ClinVar RCV Id: RCV001972835
• dbSNP Id: rs765980788
• ExAC: 5:13753494 TA / T
• gnomAD v2: 5-13753494-TA-T
• gnomAD v4: 5-13753385-TA-T
• MyVariant Identifiers: chr5:g.13753495del (hg19) ; chr5:g.13753386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753387del , CM000667.2:g.13753387del	GRCh38
NC_000005.9:g.13753496del , CM000667.1:g.13753496del	GRCh37
NC_000005.8:g.13806496del	NCBI36
NG_013081.1:g.196095del
NG_013081.2:g.196095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10719del MANE Select	ENSP00000265104.4:p.Ser3574ValfsTer?
ENST00000681290.1:c.10674del	ENSP00000505288.1:p.Ser3559ValfsTer?
ENST00000265104.4:c.10719del	ENSP00000265104.4:p.Ser3574ValfsTer?
NM_001369.2:c.10719del	NP_001360.1:p.Ser3574ValfsTer?
XM_005248262.2:c.10674del	XP_005248319.1:p.Ser3559ValfsTer?
XM_005248262.3:c.10827del	XP_005248319.2:p.Ser3610ValfsTer?
XM_017009177.1:c.10827del	XP_016864666.1:p.Ser3610ValfsTer?
XM_017009178.1:c.9732del	XP_016864667.1:p.Ser3245ValfsTer?
XM_017009179.2:c.9732del	XP_016864668.1:p.Ser3245ValfsTer?
XM_017009180.1:c.10827del	XP_016864669.1:p.Ser3610ValfsTer?
XM_017009181.1:c.10827del	XP_016864670.1:p.Ser3610ValfsTer?
XM_017009182.1:c.10827del	XP_016864671.1:p.Ser3610ValfsTer?
XM_017009185.1:c.5916del	XP_016864674.1:p.Ser1973ValfsTer?
XM_017009186.1:c.5469del	XP_016864675.1:p.Ser1824ValfsTer?
XM_017009188.1:c.4806del	XP_016864677.1:p.Ser1603ValfsTer?
XM_024454388.1:c.9732del	XP_024310156.1:p.Ser3245ValfsTer?
XM_024454389.1:c.9321del	XP_024310157.1:p.Ser3108ValfsTer?
NM_001369.3:c.10719del MANE Select	NP_001360.1:p.Ser3574ValfsTer?