Canonical Allele Identifier: CA2673274442

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841918-C-CAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841938insAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.13842046_13842047insAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.13895046_13895047insAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013081.1:g.107562_107563insTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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