Canonical Allele Identifier: CA804449643

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2809718
• ClinVar RCV Id: RCV003649713
• dbSNP Id: rs1223462735
• MyVariant Identifiers: chr5:g.13769236del (hg19) ; chr5:g.13769127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769127del , CM000667.2:g.13769127del	GRCh38
NC_000005.9:g.13769236del , CM000667.1:g.13769236del	GRCh37
NC_000005.8:g.13822236del	NCBI36
NG_013081.1:g.180354del
NG_013081.2:g.180354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9730del MANE Select	ENSP00000265104.4:p.Glu3244LysfsTer2
ENST00000681290.1:c.9685del	ENSP00000505288.1:p.Glu3229LysfsTer2
ENST00000265104.4:c.9730del	ENSP00000265104.4:p.Glu3244LysfsTer2
ENST00000504001.3:n.442del
NM_001369.2:c.9730del	NP_001360.1:p.Glu3244LysfsTer2
XM_005248262.2:c.9685del	XP_005248319.1:p.Glu3229LysfsTer2
XM_005248262.3:c.9838del	XP_005248319.2:p.Glu3280LysfsTer2
XM_017009177.1:c.9838del	XP_016864666.1:p.Glu3280LysfsTer2
XM_017009178.1:c.8743del	XP_016864667.1:p.Glu2915LysfsTer2
XM_017009179.2:c.8743del	XP_016864668.1:p.Glu2915LysfsTer2
XM_017009180.1:c.9838del	XP_016864669.1:p.Glu3280LysfsTer2
XM_017009181.1:c.9838del	XP_016864670.1:p.Glu3280LysfsTer2
XM_017009182.1:c.9838del	XP_016864671.1:p.Glu3280LysfsTer2
XM_017009185.1:c.4927del	XP_016864674.1:p.Glu1643LysfsTer2
XM_017009186.1:c.4480del	XP_016864675.1:p.Glu1494LysfsTer2
XM_017009188.1:c.3817del	XP_016864677.1:p.Glu1273LysfsTer2
XM_024454388.1:c.8743del	XP_024310156.1:p.Glu2915LysfsTer2
XM_024454389.1:c.8332del	XP_024310157.1:p.Glu2778LysfsTer2
NM_001369.3:c.9730del MANE Select	NP_001360.1:p.Glu3244LysfsTer2