Canonical Allele Identifier: CA645541002

Gene: DNAH5

Linked Data

• COSMIC: COSM231049

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752164_13752165delinsAT , CM000667.2:g.13752164_13752165delinsAT	GRCh38
NC_000005.9:g.13752273_13752274delinsAT , CM000667.1:g.13752273_13752274delinsAT	GRCh37
NC_000005.8:g.13805273_13805274delinsAT	NCBI36
NG_013081.1:g.197316_197317delinsAT
NG_013081.2:g.197316_197317delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10997_10998delinsAT MANE Select	ENSP00000265104.4:p.Arg3666Asn
ENST00000681290.1:c.10952_10953delinsAT	ENSP00000505288.1:p.Arg3651Asn
ENST00000265104.4:c.10997_10998delinsAT	ENSP00000265104.4:p.Arg3666Asn
NM_001369.2:c.10997_10998delinsAT	NP_001360.1:p.Arg3666Asn
XM_005248262.2:c.10952_10953delinsAT	XP_005248319.1:p.Arg3651Asn
XM_005248262.3:c.11105_11106delinsAT	XP_005248319.2:p.Arg3702Asn
XM_017009177.1:c.11105_11106delinsAT	XP_016864666.1:p.Arg3702Asn
XM_017009178.1:c.10010_10011delinsAT	XP_016864667.1:p.Arg3337Asn
XM_017009179.2:c.10010_10011delinsAT	XP_016864668.1:p.Arg3337Asn
XM_017009180.1:c.11105_11106delinsAT	XP_016864669.1:p.Arg3702Asn
XM_017009181.1:c.11105_11106delinsAT	XP_016864670.1:p.Arg3702Asn
XM_017009182.1:c.11105_11106delinsAT	XP_016864671.1:p.Arg3702Asn
XM_017009185.1:c.6194_6195delinsAT	XP_016864674.1:p.Arg2065Asn
XM_017009186.1:c.5747_5748delinsAT	XP_016864675.1:p.Arg1916Asn
XM_017009188.1:c.5084_5085delinsAT	XP_016864677.1:p.Arg1695Asn
XM_024454388.1:c.10010_10011delinsAT	XP_024310156.1:p.Arg3337Asn
XM_024454389.1:c.9599_9600delinsAT	XP_024310157.1:p.Arg3200Asn
NM_001369.3:c.10997_10998delinsAT MANE Select	NP_001360.1:p.Arg3666Asn