Canonical Allele Identifier: CA2592519997

Gene: DNAH5

Linked Data

• gnomAD v3: 5-13841918-C-CAAAAAAAAAAAAAAAAAAAGAAAAAAACA
• gnomAD v4: 5-13841918-C-CAAAAAAAAAAAAAAAAAAAGAAAAAAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841938_13841939insAAAAAAACAAAAAAAAAAAAAAAAAAAAG , CM000667.2:g.13841938_13841939insAAAAAAACAAAAAAAAAAAAAAAAAAAAG	GRCh38
NC_000005.9:g.13842047_13842048insAAAAAAACAAAAAAAAAAAAAAAAAAAAG , CM000667.1:g.13842047_13842048insAAAAAAACAAAAAAAAAAAAAAAAAAAAG	GRCh37
NC_000005.8:g.13895047_13895048insAAAAAAACAAAAAAAAAAAAAAAAAAAAG	NCBI36
NG_013081.1:g.107562_107563insTGTTTTTTTCTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTGTTTTTTTCTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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