Canonical Allele Identifier: CA1528458504

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841917_13841920delinsCCAA , CM000667.2:g.13841917_13841920delinsCCAA	GRCh38
NC_000005.9:g.13842026_13842029delinsCCAA , CM000667.1:g.13842026_13842029delinsCCAA	GRCh37
NC_000005.8:g.13895026_13895029delinsCCAA	NCBI36
NG_013081.1:g.107561_107564delinsTTGG
NG_013081.2:g.107561_107564delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-16_5272-13delinsTTGG MANE Select	ENSP00000265104.4:n.5272-16_5272-13delinsTTGG
ENST00000681290.1:c.5227-16_5227-13delinsTTGG	ENSP00000505288.1:n.5227-16_5227-13delinsTTGG
ENST00000265104.4:c.5272-16_5272-13delinsTTGG	ENSP00000265104.4:n.5272-16_5272-13delinsTTGG
NM_001369.2:c.5272-16_5272-13delinsTTGG	NP_001360.1:n.5272-16_5272-13delinsTTGG
XM_005248262.2:c.5227-16_5227-13delinsTTGG	XP_005248319.1:n.5227-16_5227-13delinsTTGG
XM_011513990.1:c.5272-16_5272-13delinsTTGG	XP_011512292.1:n.5272-16_5272-13delinsTTGG
XR_925598.1:n.5479-16_5479-13delinsTTGG
XM_005248262.3:c.5380-16_5380-13delinsTTGG	XP_005248319.2:n.5380-16_5380-13delinsTTGG
XM_017009177.1:c.5380-16_5380-13delinsTTGG	XP_016864666.1:n.5380-16_5380-13delinsTTGG
XM_017009178.1:c.4285-16_4285-13delinsTTGG	XP_016864667.1:n.4285-16_4285-13delinsTTGG
XM_017009179.2:c.4285-16_4285-13delinsTTGG	XP_016864668.1:n.4285-16_4285-13delinsTTGG
XM_017009180.1:c.5380-16_5380-13delinsTTGG	XP_016864669.1:n.5380-16_5380-13delinsTTGG
XM_017009181.1:c.5380-16_5380-13delinsTTGG	XP_016864670.1:n.5380-16_5380-13delinsTTGG
XM_017009182.1:c.5380-16_5380-13delinsTTGG	XP_016864671.1:n.5380-16_5380-13delinsTTGG
XM_017009183.1:c.5380-16_5380-13delinsTTGG	XP_016864672.1:n.5380-16_5380-13delinsTTGG
XM_017009184.1:c.5380-16_5380-13delinsTTGG	XP_016864673.1:n.5380-16_5380-13delinsTTGG
XM_017009185.1:c.469-16_469-13delinsTTGG	XP_016864674.1:n.469-16_469-13delinsTTGG
XM_017009186.1:c.22-16_22-13delinsTTGG	XP_016864675.1:n.22-16_22-13delinsTTGG
XM_017009187.1:c.5380-16_5380-13delinsTTGG	XP_016864676.1:n.5380-16_5380-13delinsTTGG
XM_024454388.1:c.4285-16_4285-13delinsTTGG	XP_024310156.1:n.4285-16_4285-13delinsTTGG
XM_024454389.1:c.3874-16_3874-13delinsTTGG	XP_024310157.1:n.3874-16_3874-13delinsTTGG
XR_001742034.1:n.5397-16_5397-13delinsTTGG
XR_001742035.1:n.5397-16_5397-13delinsTTGG
NM_001369.3:c.5272-16_5272-13delinsTTGG MANE Select	NP_001360.1:n.5272-16_5272-13delinsTTGG