Canonical Allele Identifier: CA2573119311
Community Standard Title: NM_001206927.2(DNAH8):c.10349del (p.Phe3450SerfsTer6)
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38917965del , CM000668.2:g.38917965del GRCh38
NC_000006.11:g.38885741del , CM000668.1:g.38885741del GRCh37
NC_000006.10:g.38993719del NCBI36
NG_041805.1:g.207625del

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.10349del (DNAH8) MANE Select NP_001193856.1:p.Phe3450SerfsTer6
ENST00000327475.11:c.10349del (DNAH8) MANE Select ENSP00000333363.7:p.Phe3450SerfsTer6
NM_001206927.1:c.10349del (DNAH8) NP_001193856.1:p.Phe3450SerfsTer6
NM_001371.3:c.9698del (DNAH8) NP_001362.2:p.Phe3233SerfsTer6
NM_001371.4:c.9698del (DNAH8) NP_001362.2:p.Phe3233SerfsTer6
NR_038401.1:n.782+5121del (DNAH8-AS1)
ENST00000327475.10:c.10349del (DNAH8) ENSP00000333363.7:p.Phe3450SerfsTer6
ENST00000359357.7:c.9698del (DNAH8) ENSP00000352312.3:p.Phe3233SerfsTer6
ENST00000449981.6:c.10349del (DNAH8) ENSP00000415331.2:p.Phe3450SerfsTer6
XM_011514318.1:c.10286del (DNAH8) XP_011512620.1:p.Phe3429SerfsTer6
XM_011514318.2:c.10286del (DNAH8) XP_011512620.1:p.Phe3429SerfsTer6
XM_011514319.1:c.10241del (DNAH8) XP_011512621.1:p.Phe3414SerfsTer6
XM_011514319.2:c.10241del (DNAH8) XP_011512621.1:p.Phe3414SerfsTer6
XM_011514320.1:c.10112del (DNAH8) XP_011512622.1:p.Phe3371SerfsTer6
XM_011514320.2:c.10112del (DNAH8) XP_011512622.1:p.Phe3371SerfsTer6
XM_011514321.1:c.9698del (DNAH8) XP_011512623.1:p.Phe3233SerfsTer6
XM_017010325.1:c.10349del (DNAH8) XP_016865814.1:p.Phe3450SerfsTer6
XM_017010326.1:c.10349del (DNAH8) XP_016865815.1:p.Phe3450SerfsTer6
XR_926078.1:n.10466del (DNAH8)
XR_926078.2:n.10469del (DNAH8)