Canonical Allele Identifier: CA1528415156
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735962_13735963delinsCT , CM000667.2:g.13735962_13735963delinsCT GRCh38
NC_000005.9:g.13736071_13736072delinsCT , CM000667.1:g.13736071_13736072delinsCT GRCh37
NC_000005.8:g.13789071_13789072delinsCT NCBI36
NG_013081.1:g.213518_213519delinsAG
NG_013081.2:g.213518_213519delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11456-31_11456-30delinsAG MANE Select ENSP00000265104.4:n.11456-31_11456-30delinsAG
ENST00000681290.1:c.11411-31_11411-30delinsAG ENSP00000505288.1:n.11411-31_11411-30delinsAG
ENST00000265104.4:c.11456-31_11456-30delinsAG ENSP00000265104.4:n.11456-31_11456-30delinsAG
NM_001369.2:c.11456-31_11456-30delinsAG NP_001360.1:n.11456-31_11456-30delinsAG
XM_005248262.2:c.11411-31_11411-30delinsAG XP_005248319.1:n.11411-31_11411-30delinsAG
XM_005248262.3:c.11564-31_11564-30delinsAG XP_005248319.2:n.11564-31_11564-30delinsAG
XM_017009177.1:c.11564-31_11564-30delinsAG XP_016864666.1:n.11564-31_11564-30delinsAG
XM_017009178.1:c.10469-31_10469-30delinsAG XP_016864667.1:n.10469-31_10469-30delinsAG
XM_017009179.2:c.10469-31_10469-30delinsAG XP_016864668.1:n.10469-31_10469-30delinsAG
XM_017009180.1:c.11564-31_11564-30delinsAG XP_016864669.1:n.11564-31_11564-30delinsAG
XM_017009181.1:c.11564-31_11564-30delinsAG XP_016864670.1:n.11564-31_11564-30delinsAG
XM_017009182.1:c.11320-31_11320-30delinsAG XP_016864671.1:n.11320-31_11320-30delinsAG
XM_017009185.1:c.6653-31_6653-30delinsAG XP_016864674.1:n.6653-31_6653-30delinsAG
XM_017009186.1:c.6206-31_6206-30delinsAG XP_016864675.1:n.6206-31_6206-30delinsAG
XM_017009188.1:c.5543-31_5543-30delinsAG XP_016864677.1:n.5543-31_5543-30delinsAG
XM_024454388.1:c.10469-31_10469-30delinsAG XP_024310156.1:n.10469-31_10469-30delinsAG
XM_024454389.1:c.10058-31_10058-30delinsAG XP_024310157.1:n.10058-31_10058-30delinsAG
NM_001369.3:c.11456-31_11456-30delinsAG MANE Select NP_001360.1:n.11456-31_11456-30delinsAG