Canonical Allele Identifier: CA2673271229

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13793473-GTTCTTCCTCACCCTCCCACCCCACATCCTCTTGATCTTTACCAAAGATCTTGTCCACAGAAGCTTCAGAGGGCAACGTGCAATTAAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793475_13793563del , CM000667.2:g.13793475_13793563del	GRCh38
NC_000005.9:g.13793584_13793672del , CM000667.1:g.13793584_13793672del	GRCh37
NC_000005.8:g.13846584_13846672del	NCBI36
NG_013081.1:g.155919_156007del
NG_013081.2:g.155919_156007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8177_8224+41del
ENST00000681290.1:c.8132_8179+41del
ENST00000265104.4:c.8177_8224+41del
NM_001369.2:c.8177_8224+41del
XM_005248262.2:c.8132_8179+41del
XM_011513990.1:c.8177_8224+41del
XR_925598.1:n.8384_8431+41del
XM_005248262.3:c.8285_8332+41del
XM_017009177.1:c.8285_8332+41del
XM_017009178.1:c.7190_7237+41del
XM_017009179.2:c.7190_7237+41del
XM_017009180.1:c.8285_8332+41del
XM_017009181.1:c.8285_8332+41del
XM_017009182.1:c.8285_8332+41del
XM_017009183.1:c.8285_8332+41del
XM_017009184.1:c.8285_8332+41del
XM_017009185.1:c.3374_3421+41del
XM_017009186.1:c.2927_2974+41del
XM_017009188.1:c.2264_2311+41del
XM_024454388.1:c.7190_7237+41del
XM_024454389.1:c.6779_6826+41del
XR_001742034.1:n.8302_8349+41del
XR_001742035.1:n.8302_8349+41del
NM_001369.3:c.8177_8224+41del