Canonical Allele Identifier: CA3203747

Gene: DNAH5

Linked Data

• dbSNP Id: rs771478737
• ExAC: 5:13844941 C / CGAAG
• gnomAD v2: 5-13844941-C-CGAAG
• MyVariant Identifiers: chr5:g.13844941_13844942insGAAG (hg19) ; chr5:g.13844832_13844833insGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844835_13844836insGGAA , CM000667.2:g.13844835_13844836insGGAA	GRCh38
NC_000005.9:g.13844944_13844945insGGAA , CM000667.1:g.13844944_13844945insGGAA	GRCh37
NC_000005.8:g.13897944_13897945insGGAA	NCBI36
NG_013081.1:g.104648_104649insCTTC
NG_013081.2:g.104648_104649insCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5271+4_5271+5insCTTC MANE Select	ENSP00000265104.4:n.5271+4_5271+5insCTTC
ENST00000681290.1:c.5226+4_5226+5insCTTC	ENSP00000505288.1:n.5226+4_5226+5insCTTC
ENST00000265104.4:c.5271+4_5271+5insCTTC	ENSP00000265104.4:n.5271+4_5271+5insCTTC
NM_001369.2:c.5271+4_5271+5insCTTC	NP_001360.1:n.5271+4_5271+5insCTTC
XM_005248262.2:c.5226+4_5226+5insCTTC	XP_005248319.1:n.5226+4_5226+5insCTTC
XM_011513990.1:c.5271+4_5271+5insCTTC	XP_011512292.1:n.5271+4_5271+5insCTTC
XR_925598.1:n.5478+4_5478+5insCTTC
XM_005248262.3:c.5379+4_5379+5insCTTC	XP_005248319.2:n.5379+4_5379+5insCTTC
XM_017009177.1:c.5379+4_5379+5insCTTC	XP_016864666.1:n.5379+4_5379+5insCTTC
XM_017009178.1:c.4284+4_4284+5insCTTC	XP_016864667.1:n.4284+4_4284+5insCTTC
XM_017009179.2:c.4284+4_4284+5insCTTC	XP_016864668.1:n.4284+4_4284+5insCTTC
XM_017009180.1:c.5379+4_5379+5insCTTC	XP_016864669.1:n.5379+4_5379+5insCTTC
XM_017009181.1:c.5379+4_5379+5insCTTC	XP_016864670.1:n.5379+4_5379+5insCTTC
XM_017009182.1:c.5379+4_5379+5insCTTC	XP_016864671.1:n.5379+4_5379+5insCTTC
XM_017009183.1:c.5379+4_5379+5insCTTC	XP_016864672.1:n.5379+4_5379+5insCTTC
XM_017009184.1:c.5379+4_5379+5insCTTC	XP_016864673.1:n.5379+4_5379+5insCTTC
XM_017009185.1:c.468+4_468+5insCTTC	XP_016864674.1:n.468+4_468+5insCTTC
XM_017009186.1:c.22-2929_22-2928insCTTC	XP_016864675.1:n.22-2929_22-2928insCTTC
XM_017009187.1:c.5379+4_5379+5insCTTC	XP_016864676.1:n.5379+4_5379+5insCTTC
XM_024454388.1:c.4284+4_4284+5insCTTC	XP_024310156.1:n.4284+4_4284+5insCTTC
XM_024454389.1:c.3873+4_3873+5insCTTC	XP_024310157.1:n.3873+4_3873+5insCTTC
XR_001742034.1:n.5396+4_5396+5insCTTC
XR_001742035.1:n.5396+4_5396+5insCTTC
NM_001369.3:c.5271+4_5271+5insCTTC MANE Select	NP_001360.1:n.5271+4_5271+5insCTTC