Canonical Allele Identifier: CA1528399779
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1742040145

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13701057_13701058insCAAATAGAAAATCAAAT , CM000667.2:g.13701057_13701058insCAAATAGAAAATCAAAT GRCh38
NC_000005.9:g.13701166_13701167insCAAATAGAAAATCAAAT , CM000667.1:g.13701166_13701167insCAAATAGAAAATCAAAT GRCh37
NC_000005.8:g.13754166_13754167insCAAATAGAAAATCAAAT NCBI36
NG_013081.1:g.248423_248424insATTTGATTTTCTATTTG
NG_013081.2:g.248423_248424insATTTGATTTTCTATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.825-187_825-186insATTTGATTTTCTATTTG
ENST00000265104.5:c.13492-187_13492-186insATTTGATTTTCTATTTG MANE Select ENSP00000265104.4:n.13492-187_13492-186insATTTGATTTTCTATTTG
ENST00000681290.1:c.13447-187_13447-186insATTTGATTTTCTATTTG ENSP00000505288.1:n.13447-187_13447-186insATTTGATTTTCTATTTG
ENST00000265104.4:c.13492-187_13492-186insATTTGATTTTCTATTTG ENSP00000265104.4:n.13492-187_13492-186insATTTGATTTTCTATTTG
NM_001369.2:c.13492-187_13492-186insATTTGATTTTCTATTTG NP_001360.1:n.13492-187_13492-186insATTTGATTTTCTATTTG
XM_005248262.2:c.13447-187_13447-186insATTTGATTTTCTATTTG XP_005248319.1:n.13447-187_13447-186insATTTGATTTTCTATTTG
XM_005248262.3:c.13600-187_13600-186insATTTGATTTTCTATTTG XP_005248319.2:n.13600-187_13600-186insATTTGATTTTCTATTTG
XM_017009177.1:c.13180-187_13180-186insATTTGATTTTCTATTTG XP_016864666.1:n.13180-187_13180-186insATTTGATTTTCTATTTG
XM_017009178.1:c.12505-187_12505-186insATTTGATTTTCTATTTG XP_016864667.1:n.12505-187_12505-186insATTTGATTTTCTATTTG
XM_017009179.2:c.12505-187_12505-186insATTTGATTTTCTATTTG XP_016864668.1:n.12505-187_12505-186insATTTGATTTTCTATTTG
XM_017009185.1:c.8689-187_8689-186insATTTGATTTTCTATTTG XP_016864674.1:n.8689-187_8689-186insATTTGATTTTCTATTTG
XM_017009186.1:c.8242-187_8242-186insATTTGATTTTCTATTTG XP_016864675.1:n.8242-187_8242-186insATTTGATTTTCTATTTG
XM_017009188.1:c.7579-187_7579-186insATTTGATTTTCTATTTG XP_016864677.1:n.7579-187_7579-186insATTTGATTTTCTATTTG
XM_024454388.1:c.12505-187_12505-186insATTTGATTTTCTATTTG XP_024310156.1:n.12505-187_12505-186insATTTGATTTTCTATTTG
XM_024454389.1:c.12094-187_12094-186insATTTGATTTTCTATTTG XP_024310157.1:n.12094-187_12094-186insATTTGATTTTCTATTTG
NM_001369.3:c.13492-187_13492-186insATTTGATTTTCTATTTG MANE Select NP_001360.1:n.13492-187_13492-186insATTTGATTTTCTATTTG