Canonical Allele Identifier: CA804515873

Gene: DNAH5

Linked Data

• dbSNP Id: rs1373971825
• gnomAD v3: 5-13839128-CA-C
• gnomAD v4: 5-13839128-CA-C
• MyVariant Identifiers: chr5:g.13839238del (hg19) ; chr5:g.13839129del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839129del , CM000667.2:g.13839129del	GRCh38
NC_000005.9:g.13839238del , CM000667.1:g.13839238del	GRCh37
NC_000005.8:g.13892238del	NCBI36
NG_013081.1:g.110352del
NG_013081.2:g.110352del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5882+227del MANE Select	ENSP00000265104.4:n.5882+227del
ENST00000681290.1:c.5837+227del	ENSP00000505288.1:n.5837+227del
ENST00000265104.4:c.5882+227del	ENSP00000265104.4:n.5882+227del
NM_001369.2:c.5882+227del	NP_001360.1:n.5882+227del
XM_005248262.2:c.5837+227del	XP_005248319.1:n.5837+227del
XM_011513990.1:c.5882+227del	XP_011512292.1:n.5882+227del
XR_925598.1:n.6089+227del
XM_005248262.3:c.5990+227del	XP_005248319.2:n.5990+227del
XM_017009177.1:c.5990+227del	XP_016864666.1:n.5990+227del
XM_017009178.1:c.4895+227del	XP_016864667.1:n.4895+227del
XM_017009179.2:c.4895+227del	XP_016864668.1:n.4895+227del
XM_017009180.1:c.5990+227del	XP_016864669.1:n.5990+227del
XM_017009181.1:c.5990+227del	XP_016864670.1:n.5990+227del
XM_017009182.1:c.5990+227del	XP_016864671.1:n.5990+227del
XM_017009183.1:c.5990+227del	XP_016864672.1:n.5990+227del
XM_017009184.1:c.5990+227del	XP_016864673.1:n.5990+227del
XM_017009185.1:c.1079+227del	XP_016864674.1:n.1079+227del
XM_017009186.1:c.632+227del	XP_016864675.1:n.632+227del
XM_017009187.1:c.5990+227del	XP_016864676.1:n.5990+227del
XM_024454388.1:c.4895+227del	XP_024310156.1:n.4895+227del
XM_024454389.1:c.4484+227del	XP_024310157.1:n.4484+227del
XR_001742034.1:n.6007+227del
XR_001742035.1:n.6007+227del
NM_001369.3:c.5882+227del MANE Select	NP_001360.1:n.5882+227del