Canonical Allele Identifier: CA1996392145
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103125202_103125204delinsGCT , CM000673.2:g.103125202_103125204delinsGCT GRCh38
NC_000011.9:g.102995931_102995933delinsGCT , CM000673.1:g.102995931_102995933delinsGCT GRCh37
NC_000011.8:g.102501141_102501143delinsGCT NCBI36
NG_016423.1:g.20772_20774delinsGCT
NG_016423.2:g.20772_20774delinsGCT

Transcript Alleles

HGVS Amino-acid change
ENST00000650373.2:c.1764_1766delinsGCT MANE Plus Clinical ENSP00000497174.1:p.Gln588=
ENST00000375735.7:c.1764_1766delinsGCT MANE Select ENSP00000364887.2:p.Gln588=
ENST00000648198.1:c.1764_1766delinsGCT ENSP00000497329.1:p.Gln588=
ENST00000649323.1:c.1764_1766delinsGCT ENSP00000497581.1:p.Gln588=
ENST00000650373.1:c.1764_1766delinsGCT ENSP00000497174.1:p.Gln588=
ENST00000334267.11:c.1764_1766delinsGCT ENSP00000334021.7:p.Gln588=
ENST00000375735.6:c.1764_1766delinsGCT ENSP00000364887.2:p.Gln588=
ENST00000398093.7:c.1764_1766delinsGCT ENSP00000381167.3:p.Gln588=
NM_001080463.1:c.1764_1766delinsGCT NP_001073932.1:p.Gln588=
NM_001377.2:c.1764_1766delinsGCT NP_001368.2:p.Gln588=
XM_006718903.2:c.1764_1766delinsGCT XP_006718966.1:p.Gln588=
XM_017018291.1:c.1764_1766delinsGCT XP_016873780.1:p.Gln588=
XM_017018292.1:c.1146_1148delinsGCT XP_016873781.1:p.Gln382=
XM_017018293.1:c.1764_1766delinsGCT XP_016873782.1:p.Gln588=
NM_001377.3:c.1764_1766delinsGCT MANE Select NP_001368.2:p.Gln588=
NM_001080463.2:c.1764_1766delinsGCT MANE Plus Clinical NP_001073932.1:p.Gln588=