Canonical Allele Identifier: CA2673274458

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841918-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841938insAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.13842046_13842047insAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.13895046_13895047insAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013081.1:g.107562_107563insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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