Canonical Allele Identifier: CA804442356

Gene: DNAH5

Linked Data

• dbSNP Id: rs1246083233
• MyVariant Identifiers: chr5:g.13792550_13792552del (hg19) ; chr5:g.13792441_13792443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792441_13792443del , CM000667.2:g.13792441_13792443del	GRCh38
NC_000005.9:g.13792550_13792552del , CM000667.1:g.13792550_13792552del	GRCh37
NC_000005.8:g.13845550_13845552del	NCBI36
NG_013081.1:g.157038_157040del
NG_013081.2:g.157038_157040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8225-226_8225-224del MANE Select	ENSP00000265104.4:n.8225-226_8225-224del
ENST00000681290.1:c.8180-226_8180-224del	ENSP00000505288.1:n.8180-226_8180-224del
ENST00000265104.4:c.8225-226_8225-224del	ENSP00000265104.4:n.8225-226_8225-224del
NM_001369.2:c.8225-226_8225-224del	NP_001360.1:n.8225-226_8225-224del
XM_005248262.2:c.8180-226_8180-224del	XP_005248319.1:n.8180-226_8180-224del
XM_011513990.1:c.8225-226_8225-224del	XP_011512292.1:n.8225-226_8225-224del
XR_925598.1:n.8432-226_8432-224del
XM_005248262.3:c.8333-226_8333-224del	XP_005248319.2:n.8333-226_8333-224del
XM_017009177.1:c.8333-226_8333-224del	XP_016864666.1:n.8333-226_8333-224del
XM_017009178.1:c.7238-226_7238-224del	XP_016864667.1:n.7238-226_7238-224del
XM_017009179.2:c.7238-226_7238-224del	XP_016864668.1:n.7238-226_7238-224del
XM_017009180.1:c.8333-226_8333-224del	XP_016864669.1:n.8333-226_8333-224del
XM_017009181.1:c.8333-226_8333-224del	XP_016864670.1:n.8333-226_8333-224del
XM_017009182.1:c.8333-226_8333-224del	XP_016864671.1:n.8333-226_8333-224del
XM_017009183.1:c.8333-226_8333-224del	XP_016864672.1:n.8333-226_8333-224del
XM_017009184.1:c.8333-226_8333-224del	XP_016864673.1:n.8333-226_8333-224del
XM_017009185.1:c.3422-226_3422-224del	XP_016864674.1:n.3422-226_3422-224del
XM_017009186.1:c.2975-226_2975-224del	XP_016864675.1:n.2975-226_2975-224del
XM_017009188.1:c.2312-226_2312-224del	XP_016864677.1:n.2312-226_2312-224del
XM_024454388.1:c.7238-226_7238-224del	XP_024310156.1:n.7238-226_7238-224del
XM_024454389.1:c.6827-226_6827-224del	XP_024310157.1:n.6827-226_6827-224del
XR_001742034.1:n.8350-226_8350-224del
XR_001742035.1:n.8350-226_8350-224del
NM_001369.3:c.8225-226_8225-224del MANE Select	NP_001360.1:n.8225-226_8225-224del