Canonical Allele Identifier: CA913108275

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752312del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752203del , CM000667.2:g.13752203del	GRCh38
NC_000005.9:g.13752312del , CM000667.1:g.13752312del	GRCh37
NC_000005.8:g.13805312del	NCBI36
NG_013081.1:g.197278del
NG_013081.2:g.197278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10959del MANE Select	ENSP00000265104.4:p.Glu3654ArgfsTer3
ENST00000681290.1:c.10914del	ENSP00000505288.1:p.Glu3639ArgfsTer3
ENST00000265104.4:c.10959del	ENSP00000265104.4:p.Glu3654ArgfsTer3
NM_001369.2:c.10959del	NP_001360.1:p.Glu3654ArgfsTer3
XM_005248262.2:c.10914del	XP_005248319.1:p.Glu3639ArgfsTer3
XM_005248262.3:c.11067del	XP_005248319.2:p.Glu3690ArgfsTer3
XM_017009177.1:c.11067del	XP_016864666.1:p.Glu3690ArgfsTer3
XM_017009178.1:c.9972del	XP_016864667.1:p.Glu3325ArgfsTer3
XM_017009179.2:c.9972del	XP_016864668.1:p.Glu3325ArgfsTer3
XM_017009180.1:c.11067del	XP_016864669.1:p.Glu3690ArgfsTer3
XM_017009181.1:c.11067del	XP_016864670.1:p.Glu3690ArgfsTer3
XM_017009182.1:c.11067del	XP_016864671.1:p.Glu3690ArgfsTer3
XM_017009185.1:c.6156del	XP_016864674.1:p.Glu2053ArgfsTer3
XM_017009186.1:c.5709del	XP_016864675.1:p.Glu1904ArgfsTer3
XM_017009188.1:c.5046del	XP_016864677.1:p.Glu1683ArgfsTer3
XM_024454388.1:c.9972del	XP_024310156.1:p.Glu3325ArgfsTer3
XM_024454389.1:c.9561del	XP_024310157.1:p.Glu3188ArgfsTer3
NM_001369.3:c.10959del MANE Select	NP_001360.1:p.Glu3654ArgfsTer3