Canonical Allele Identifier: CA557871729

Gene: DNAH5

Linked Data

• dbSNP Id: rs1234890806
• gnomAD v2: 5-13842029-A-AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAC
• MyVariant Identifiers: chr5:g.13842029_13842030insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAC (hg19) ; chr5:g.13841920_13841921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841937_13841938insAAAAAAAAAAAAAAAAAAAATAAAAAAAAAACAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAAAAAAAAAAAAAAAAAAAATAAAAAAAAAACAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.13842046_13842047insAAAAAAAAAAAAAAAAAAAATAAAAAAAAAACAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAAAAAAAAAAAAAAAAAAAATAAAAAAAAAACAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.13895046_13895047insAAAAAAAAAAAAAAAAAAAATAAAAAAAAAACAAAAAAAAAAAAAAAAA	NCBI36
NG_013081.1:g.107560_107561insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107560_107561insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000265104.4:n.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTT...
ENST00000681290.1:c.5227-17_5227-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000505288.1:n.5227-17_5227-16insGTTTTTTTTTTATTTTTTTTTTT...
ENST00000265104.4:c.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000265104.4:n.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTT...
NM_001369.2:c.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001360.1:n.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTT...
XM_005248262.2:c.5227-17_5227-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248319.1:n.5227-17_5227-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_011513990.1:c.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512292.1:n.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XR_925598.1:n.5479-17_5479-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248262.3:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248319.2:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009177.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864666.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009178.1:c.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864667.1:n.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009179.2:c.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864668.1:n.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009180.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864669.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009181.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864670.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009182.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864671.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009183.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864672.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009184.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864673.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_017009185.1:c.469-17_469-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864674.1:n.469-17_469-16insGTTTTTTTTTTATTTTTTTTTTTTTTTT...
XM_017009186.1:c.22-17_22-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864675.1:n.22-17_22-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTT...
XM_017009187.1:c.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864676.1:n.5380-17_5380-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_024454388.1:c.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024310156.1:n.4285-17_4285-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XM_024454389.1:c.3874-17_3874-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024310157.1:n.3874-17_3874-16insGTTTTTTTTTTATTTTTTTTTTTTTT...
XR_001742034.1:n.5397-17_5397-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742035.1:n.5397-17_5397-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001369.3:c.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001360.1:n.5272-17_5272-16insGTTTTTTTTTTATTTTTTTTTTTTTTTTT...