Canonical Allele Identifier: CA3201259

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2733266
• ClinVar RCV Id: RCV003535111
• dbSNP Id: rs756626821
• ExAC: 5:13692257 TAAAAG / T
• gnomAD v2: 5-13692257-TAAAAG-T
• gnomAD v4: 5-13692148-TAAAAG-T
• MyVariant Identifiers: chr5:g.13692258_13692262del (hg19) ; chr5:g.13692149_13692153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692156_13692160del , CM000667.2:g.13692156_13692160del	GRCh38
NC_000005.9:g.13692265_13692269del , CM000667.1:g.13692265_13692269del	GRCh37
NC_000005.8:g.13745265_13745269del	NCBI36
NG_013081.1:g.257328_257332del
NG_013081.2:g.257328_257332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1057-18_1057-14del
ENST00000265104.5:c.13724-18_13724-14del MANE Select	ENSP00000265104.4:n.13724-18_13724-14del
ENST00000681290.1:c.13679-18_13679-14del	ENSP00000505288.1:n.13679-18_13679-14del
ENST00000265104.4:c.13724-18_13724-14del	ENSP00000265104.4:n.13724-18_13724-14del
NM_001369.2:c.13724-18_13724-14del	NP_001360.1:n.13724-18_13724-14del
XM_005248262.2:c.13679-18_13679-14del	XP_005248319.1:n.13679-18_13679-14del
XM_005248262.3:c.13832-18_13832-14del	XP_005248319.2:n.13832-18_13832-14del
XM_017009177.1:c.13412-18_13412-14del	XP_016864666.1:n.13412-18_13412-14del
XM_017009178.1:c.12737-18_12737-14del	XP_016864667.1:n.12737-18_12737-14del
XM_017009179.2:c.12737-18_12737-14del	XP_016864668.1:n.12737-18_12737-14del
XM_017009185.1:c.8921-18_8921-14del	XP_016864674.1:n.8921-18_8921-14del
XM_017009186.1:c.8474-18_8474-14del	XP_016864675.1:n.8474-18_8474-14del
XM_017009188.1:c.7811-18_7811-14del	XP_016864677.1:n.7811-18_7811-14del
XM_024454388.1:c.12737-18_12737-14del	XP_024310156.1:n.12737-18_12737-14del
XM_024454389.1:c.12326-18_12326-14del	XP_024310157.1:n.12326-18_12326-14del
NM_001369.3:c.13724-18_13724-14del MANE Select	NP_001360.1:n.13724-18_13724-14del