Canonical Allele Identifier: CA1528458605

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841950delinsAGCTATAGTCATAT , CM000667.2:g.13841937_13841950delinsAGCTATAGTCATAT	GRCh38
NC_000005.9:g.13842046_13842059delinsAGCTATAGTCATAT , CM000667.1:g.13842046_13842059delinsAGCTATAGTCATAT	GRCh37
NC_000005.8:g.13895046_13895059delinsAGCTATAGTCATAT	NCBI36
NG_013081.1:g.107531_107544delinsATATGACTATAGCT
NG_013081.2:g.107531_107544delinsATATGACTATAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-46_5272-33delinsATATGACTATAGCT MANE Select	ENSP00000265104.4:n.5272-46_5272-33delinsATATGACTATAGCT
ENST00000681290.1:c.5227-46_5227-33delinsATATGACTATAGCT	ENSP00000505288.1:n.5227-46_5227-33delinsATATGACTATAGCT
ENST00000265104.4:c.5272-46_5272-33delinsATATGACTATAGCT	ENSP00000265104.4:n.5272-46_5272-33delinsATATGACTATAGCT
NM_001369.2:c.5272-46_5272-33delinsATATGACTATAGCT	NP_001360.1:n.5272-46_5272-33delinsATATGACTATAGCT
XM_005248262.2:c.5227-46_5227-33delinsATATGACTATAGCT	XP_005248319.1:n.5227-46_5227-33delinsATATGACTATAGCT
XM_011513990.1:c.5272-46_5272-33delinsATATGACTATAGCT	XP_011512292.1:n.5272-46_5272-33delinsATATGACTATAGCT
XR_925598.1:n.5479-46_5479-33delinsATATGACTATAGCT
XM_005248262.3:c.5380-46_5380-33delinsATATGACTATAGCT	XP_005248319.2:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009177.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864666.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009178.1:c.4285-46_4285-33delinsATATGACTATAGCT	XP_016864667.1:n.4285-46_4285-33delinsATATGACTATAGCT
XM_017009179.2:c.4285-46_4285-33delinsATATGACTATAGCT	XP_016864668.1:n.4285-46_4285-33delinsATATGACTATAGCT
XM_017009180.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864669.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009181.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864670.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009182.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864671.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009183.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864672.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009184.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864673.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_017009185.1:c.469-46_469-33delinsATATGACTATAGCT	XP_016864674.1:n.469-46_469-33delinsATATGACTATAGCT
XM_017009186.1:c.22-46_22-33delinsATATGACTATAGCT	XP_016864675.1:n.22-46_22-33delinsATATGACTATAGCT
XM_017009187.1:c.5380-46_5380-33delinsATATGACTATAGCT	XP_016864676.1:n.5380-46_5380-33delinsATATGACTATAGCT
XM_024454388.1:c.4285-46_4285-33delinsATATGACTATAGCT	XP_024310156.1:n.4285-46_4285-33delinsATATGACTATAGCT
XM_024454389.1:c.3874-46_3874-33delinsATATGACTATAGCT	XP_024310157.1:n.3874-46_3874-33delinsATATGACTATAGCT
XR_001742034.1:n.5397-46_5397-33delinsATATGACTATAGCT
XR_001742035.1:n.5397-46_5397-33delinsATATGACTATAGCT
NM_001369.3:c.5272-46_5272-33delinsATATGACTATAGCT MANE Select	NP_001360.1:n.5272-46_5272-33delinsATATGACTATAGCT