Canonical Allele Identifier: CA2673274454

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841918-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841938insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.13842046_13842047insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.13895046_13895047insAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013081.1:g.107562_107563insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000265104.4:n.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTT...
ENST00000681290.1:c.5227-15_5227-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000505288.1:n.5227-15_5227-14insTTGTTTTTTTTTTTTTTTTTTTT...
ENST00000265104.4:c.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000265104.4:n.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTT...
NM_001369.2:c.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001360.1:n.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248262.2:c.5227-15_5227-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248319.1:n.5227-15_5227-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_011513990.1:c.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512292.1:n.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XR_925598.1:n.5479-15_5479-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248262.3:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248319.2:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009177.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864666.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009178.1:c.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864667.1:n.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009179.2:c.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864668.1:n.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009180.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864669.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009181.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864670.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009182.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864671.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009183.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864672.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009184.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864673.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009185.1:c.469-15_469-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864674.1:n.469-15_469-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009186.1:c.22-15_22-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864675.1:n.22-15_22-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009187.1:c.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864676.1:n.5380-15_5380-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_024454388.1:c.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024310156.1:n.4285-15_4285-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XM_024454389.1:c.3874-15_3874-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024310157.1:n.3874-15_3874-14insTTGTTTTTTTTTTTTTTTTTTTTTTT...
XR_001742034.1:n.5397-15_5397-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742035.1:n.5397-15_5397-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001369.3:c.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001360.1:n.5272-15_5272-14insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT...