Canonical Allele Identifier: CA1996392179

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125302_103125304delinsAAT , CM000673.2:g.103125302_103125304delinsAAT	GRCh38
NC_000011.9:g.102996031_102996033delinsAAT , CM000673.1:g.102996031_102996033delinsAAT	GRCh37
NC_000011.8:g.102501241_102501243delinsAAT	NCBI36
NG_016423.1:g.20872_20874delinsAAT
NG_016423.2:g.20872_20874delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1857+7_1857+9delinsAAT MANE Plus Clinical	ENSP00000497174.1:n.1857+7_1857+9delinsAAT
ENST00000375735.7:c.1857+7_1857+9delinsAAT MANE Select	ENSP00000364887.2:n.1857+7_1857+9delinsAAT
ENST00000648198.1:c.1857+7_1857+9delinsAAT	ENSP00000497329.1:n.1857+7_1857+9delinsAAT
ENST00000649323.1:c.1857+7_1857+9delinsAAT	ENSP00000497581.1:n.1857+7_1857+9delinsAAT
ENST00000650373.1:c.1857+7_1857+9delinsAAT	ENSP00000497174.1:n.1857+7_1857+9delinsAAT
ENST00000334267.11:c.1857+7_1857+9delinsAAT	ENSP00000334021.7:n.1857+7_1857+9delinsAAT
ENST00000375735.6:c.1857+7_1857+9delinsAAT	ENSP00000364887.2:n.1857+7_1857+9delinsAAT
ENST00000398093.7:c.1857+7_1857+9delinsAAT	ENSP00000381167.3:n.1857+7_1857+9delinsAAT
NM_001080463.1:c.1857+7_1857+9delinsAAT	NP_001073932.1:n.1857+7_1857+9delinsAAT
NM_001377.2:c.1857+7_1857+9delinsAAT	NP_001368.2:n.1857+7_1857+9delinsAAT
XM_006718903.2:c.1857+7_1857+9delinsAAT	XP_006718966.1:n.1857+7_1857+9delinsAAT
XM_017018291.1:c.1857+7_1857+9delinsAAT	XP_016873780.1:n.1857+7_1857+9delinsAAT
XM_017018292.1:c.1239+7_1239+9delinsAAT	XP_016873781.1:n.1239+7_1239+9delinsAAT
XM_017018293.1:c.1857+7_1857+9delinsAAT	XP_016873782.1:n.1857+7_1857+9delinsAAT
NM_001377.3:c.1857+7_1857+9delinsAAT MANE Select	NP_001368.2:n.1857+7_1857+9delinsAAT
NM_001080463.2:c.1857+7_1857+9delinsAAT MANE Plus Clinical	NP_001073932.1:n.1857+7_1857+9delinsAAT