Canonical Allele Identifier: CA2765349738

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841938insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.13842046_13842047insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.13895046_13895047insAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013081.1:g.107562_107563insTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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