Canonical Allele Identifier: CA2695204156

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792075del , CM000667.2:g.13792075del	GRCh38
NC_000005.9:g.13792184del , CM000667.1:g.13792184del	GRCh37
NC_000005.8:g.13845184del	NCBI36
NG_013081.1:g.157407del
NG_013081.2:g.157407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8368del MANE Select	ENSP00000265104.4:p.Tyr2790MetfsTer16
ENST00000681290.1:c.8323del	ENSP00000505288.1:p.Tyr2775MetfsTer16
ENST00000265104.4:c.8368del	ENSP00000265104.4:p.Tyr2790MetfsTer16
NM_001369.2:c.8368del	NP_001360.1:p.Tyr2790MetfsTer16
XM_005248262.2:c.8323del	XP_005248319.1:p.Tyr2775MetfsTer16
XM_011513990.1:c.8368del	XP_011512292.1:p.Tyr2790MetfsTer16
XR_925598.1:n.8575del
XM_005248262.3:c.8476del	XP_005248319.2:p.Tyr2826MetfsTer16
XM_017009177.1:c.8476del	XP_016864666.1:p.Tyr2826MetfsTer16
XM_017009178.1:c.7381del	XP_016864667.1:p.Tyr2461MetfsTer16
XM_017009179.2:c.7381del	XP_016864668.1:p.Tyr2461MetfsTer16
XM_017009180.1:c.8476del	XP_016864669.1:p.Tyr2826MetfsTer16
XM_017009181.1:c.8476del	XP_016864670.1:p.Tyr2826MetfsTer16
XM_017009182.1:c.8476del	XP_016864671.1:p.Tyr2826MetfsTer16
XM_017009183.1:c.8476del	XP_016864672.1:p.Tyr2826MetfsTer16
XM_017009184.1:c.8476del	XP_016864673.1:p.Tyr2826MetfsTer16
XM_017009185.1:c.3565del	XP_016864674.1:p.Tyr1189MetfsTer16
XM_017009186.1:c.3118del	XP_016864675.1:p.Tyr1040MetfsTer16
XM_017009188.1:c.2455del	XP_016864677.1:p.Tyr819MetfsTer16
XM_024454388.1:c.7381del	XP_024310156.1:p.Tyr2461MetfsTer16
XM_024454389.1:c.6970del	XP_024310157.1:p.Tyr2324MetfsTer16
XR_001742034.1:n.8493del
XR_001742035.1:n.8493del
NM_001369.3:c.8368del MANE Select	NP_001360.1:p.Tyr2790MetfsTer16