Canonical Allele Identifier: CA1318502299

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787186_195787189delinsAATG , CM000664.2:g.195787186_195787189delinsAATG	GRCh38
NC_000002.11:g.196651910_196651913delinsAATG , CM000664.1:g.196651910_196651913delinsAATG	GRCh37
NC_000002.10:g.196360155_196360158delinsAATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717-18_10717-15delinsCATT MANE Select	ENSP00000311273.6:n.10717-18_10717-15delinsCATT
ENST00000312428.10:c.10717-18_10717-15delinsCATT	ENSP00000311273.6:n.10717-18_10717-15delinsCATT
ENST00000409063.5:c.166-18_166-15delinsCATT	ENSP00000386912.1:n.166-18_166-15delinsCATT
NM_018897.2:c.10717-18_10717-15delinsCATT	NP_061720.2:n.10717-18_10717-15delinsCATT
XM_011511487.1:c.10717-18_10717-15delinsCATT	XP_011509789.1:n.10717-18_10717-15delinsCATT
XM_011511488.1:c.10597-18_10597-15delinsCATT	XP_011509790.1:n.10597-18_10597-15delinsCATT
XM_011511489.1:c.10579-18_10579-15delinsCATT	XP_011509791.1:n.10579-18_10579-15delinsCATT
XM_011511490.1:c.10492-18_10492-15delinsCATT	XP_011509792.1:n.10492-18_10492-15delinsCATT
XM_011511496.1:c.6361-18_6361-15delinsCATT	XP_011509798.1:n.6361-18_6361-15delinsCATT
XM_011511497.1:c.5089-18_5089-15delinsCATT	XP_011509799.1:n.5089-18_5089-15delinsCATT
XM_011511488.3:c.10597-18_10597-15delinsCATT	XP_011509790.1:n.10597-18_10597-15delinsCATT
XM_011511489.2:c.10579-18_10579-15delinsCATT	XP_011509791.1:n.10579-18_10579-15delinsCATT
XM_011511490.3:c.10492-18_10492-15delinsCATT	XP_011509792.1:n.10492-18_10492-15delinsCATT
XM_011511497.2:c.5089-18_5089-15delinsCATT	XP_011509799.1:n.5089-18_5089-15delinsCATT
XM_017004504.2:c.10444-18_10444-15delinsCATT	XP_016859993.1:n.10444-18_10444-15delinsCATT
NM_018897.3:c.10717-18_10717-15delinsCATT MANE Select	NP_061720.2:n.10717-18_10717-15delinsCATT