Canonical Allele Identifier: CA1996413676

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103172949_103172952delinsGTAA , CM000673.2:g.103172949_103172952delinsGTAA	GRCh38
NC_000011.9:g.103043678_103043681delinsGTAA , CM000673.1:g.103043678_103043681delinsGTAA	GRCh37
NC_000011.8:g.102548888_102548891delinsGTAA	NCBI36
NG_016423.1:g.68519_68522delinsGTAA
NG_016423.2:g.68519_68522delinsGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5335-133_5335-130delinsGTAA MANE Plus Clinical	ENSP00000497174.1:n.5335-133_5335-130delinsGTAA
ENST00000375735.7:c.5335-133_5335-130delinsGTAA MANE Select	ENSP00000364887.2:n.5335-133_5335-130delinsGTAA
ENST00000649323.1:c.*2880-133_*2880-130delinsGTAA	ENSP00000497581.1:n.*2880-133_*2880-130delinsGTAA
ENST00000650373.1:c.5335-133_5335-130delinsGTAA	ENSP00000497174.1:n.5335-133_5335-130delinsGTAA
ENST00000334267.11:c.2205+38530_2205+38533delinsGTAA	ENSP00000334021.7:n.2205+38530_2205+38533delinsGTAA
ENST00000375735.6:c.5335-133_5335-130delinsGTAA	ENSP00000364887.2:n.5335-133_5335-130delinsGTAA
ENST00000398093.7:c.5335-133_5335-130delinsGTAA	ENSP00000381167.3:n.5335-133_5335-130delinsGTAA
NM_001080463.1:c.5335-133_5335-130delinsGTAA	NP_001073932.1:n.5335-133_5335-130delinsGTAA
NM_001377.2:c.5335-133_5335-130delinsGTAA	NP_001368.2:n.5335-133_5335-130delinsGTAA
XM_006718903.2:c.5335-133_5335-130delinsGTAA	XP_006718966.1:n.5335-133_5335-130delinsGTAA
XM_017018291.1:c.5335-133_5335-130delinsGTAA	XP_016873780.1:n.5335-133_5335-130delinsGTAA
XM_017018292.1:c.4717-133_4717-130delinsGTAA	XP_016873781.1:n.4717-133_4717-130delinsGTAA
XM_017018293.1:c.5335-133_5335-130delinsGTAA	XP_016873782.1:n.5335-133_5335-130delinsGTAA
NM_001377.3:c.5335-133_5335-130delinsGTAA MANE Select	NP_001368.2:n.5335-133_5335-130delinsGTAA
NM_001080463.2:c.5335-133_5335-130delinsGTAA MANE Plus Clinical	NP_001073932.1:n.5335-133_5335-130delinsGTAA