Canonical Allele Identifier: CA804349452

Gene: DNAH5

Linked Data

• dbSNP Id: rs1416200108
• gnomAD v3: 5-13691733-AC-A
• gnomAD v4: 5-13691733-AC-A
• MyVariant Identifiers: chr5:g.13691843del (hg19) ; chr5:g.13691734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691734del , CM000667.2:g.13691734del	GRCh38
NC_000005.9:g.13691843del , CM000667.1:g.13691843del	GRCh37
NC_000005.8:g.13744843del	NCBI36
NG_013081.1:g.257747del
NG_013081.2:g.257747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1458del
ENST00000265104.5:c.*250del MANE Select	ENSP00000265104.4:n.*250del
ENST00000681290.1:c.*250del	ENSP00000505288.1:n.*250del
ENST00000265104.4:c.*250del	ENSP00000265104.4:n.*250del
NM_001369.2:c.*250del	NP_001360.1:n.*250del
XM_005248262.2:c.*250del	XP_005248319.1:n.*250del
XM_005248262.3:c.*250del	XP_005248319.2:n.*250del
XM_017009177.1:c.*250del	XP_016864666.1:n.*250del
XM_017009178.1:c.*250del	XP_016864667.1:n.*250del
XM_017009179.2:c.*250del	XP_016864668.1:n.*250del
XM_017009185.1:c.*250del	XP_016864674.1:n.*250del
XM_017009186.1:c.*250del	XP_016864675.1:n.*250del
XM_017009188.1:c.*250del	XP_016864677.1:n.*250del
XM_024454388.1:c.*250del	XP_024310156.1:n.*250del
XM_024454389.1:c.*250del	XP_024310157.1:n.*250del
NM_001369.3:c.*250del MANE Select	NP_001360.1:n.*250del