Canonical Allele Identifier: CA1528399784
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13701073_13701074delinsAT , CM000667.2:g.13701073_13701074delinsAT GRCh38
NC_000005.9:g.13701182_13701183delinsAT , CM000667.1:g.13701182_13701183delinsAT GRCh37
NC_000005.8:g.13754182_13754183delinsAT NCBI36
NG_013081.1:g.248407_248408delinsAT
NG_013081.2:g.248407_248408delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.825-203_825-202delinsAT
ENST00000265104.5:c.13492-203_13492-202delinsAT MANE Select ENSP00000265104.4:n.13492-203_13492-202delinsAT
ENST00000681290.1:c.13447-203_13447-202delinsAT ENSP00000505288.1:n.13447-203_13447-202delinsAT
ENST00000265104.4:c.13492-203_13492-202delinsAT ENSP00000265104.4:n.13492-203_13492-202delinsAT
NM_001369.2:c.13492-203_13492-202delinsAT NP_001360.1:n.13492-203_13492-202delinsAT
XM_005248262.2:c.13447-203_13447-202delinsAT XP_005248319.1:n.13447-203_13447-202delinsAT
XM_005248262.3:c.13600-203_13600-202delinsAT XP_005248319.2:n.13600-203_13600-202delinsAT
XM_017009177.1:c.13180-203_13180-202delinsAT XP_016864666.1:n.13180-203_13180-202delinsAT
XM_017009178.1:c.12505-203_12505-202delinsAT XP_016864667.1:n.12505-203_12505-202delinsAT
XM_017009179.2:c.12505-203_12505-202delinsAT XP_016864668.1:n.12505-203_12505-202delinsAT
XM_017009185.1:c.8689-203_8689-202delinsAT XP_016864674.1:n.8689-203_8689-202delinsAT
XM_017009186.1:c.8242-203_8242-202delinsAT XP_016864675.1:n.8242-203_8242-202delinsAT
XM_017009188.1:c.7579-203_7579-202delinsAT XP_016864677.1:n.7579-203_7579-202delinsAT
XM_024454388.1:c.12505-203_12505-202delinsAT XP_024310156.1:n.12505-203_12505-202delinsAT
XM_024454389.1:c.12094-203_12094-202delinsAT XP_024310157.1:n.12094-203_12094-202delinsAT
NM_001369.3:c.13492-203_13492-202delinsAT MANE Select NP_001360.1:n.13492-203_13492-202delinsAT