Canonical Allele Identifier: CA1996410810

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103166101_103166106delinsTCTATC , CM000673.2:g.103166101_103166106delinsTCTATC	GRCh38
NC_000011.9:g.103036830_103036835delinsTCTATC , CM000673.1:g.103036830_103036835delinsTCTATC	GRCh37
NC_000011.8:g.102542040_102542045delinsTCTATC	NCBI36
NG_016423.1:g.61671_61676delinsTCTATC
NG_016423.2:g.61671_61676delinsTCTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4762+53_4762+58delinsTCTATC MANE Plus Clinical	ENSP00000497174.1:n.4762+53_4762+58delinsTCTATC
ENST00000375735.7:c.4762+53_4762+58delinsTCTATC MANE Select	ENSP00000364887.2:n.4762+53_4762+58delinsTCTATC
ENST00000649323.1:c.*2307+53_*2307+58delinsTCTATC	ENSP00000497581.1:n.*2307+53_*2307+58delinsTCTATC
ENST00000650373.1:c.4762+53_4762+58delinsTCTATC	ENSP00000497174.1:n.4762+53_4762+58delinsTCTATC
ENST00000334267.11:c.2205+31682_2205+31687delinsTCTATC	ENSP00000334021.7:n.2205+31682_2205+31687delinsTCTATC
ENST00000375735.6:c.4762+53_4762+58delinsTCTATC	ENSP00000364887.2:n.4762+53_4762+58delinsTCTATC
ENST00000398093.7:c.4762+53_4762+58delinsTCTATC	ENSP00000381167.3:n.4762+53_4762+58delinsTCTATC
NM_001080463.1:c.4762+53_4762+58delinsTCTATC	NP_001073932.1:n.4762+53_4762+58delinsTCTATC
NM_001377.2:c.4762+53_4762+58delinsTCTATC	NP_001368.2:n.4762+53_4762+58delinsTCTATC
XM_006718903.2:c.4762+53_4762+58delinsTCTATC	XP_006718966.1:n.4762+53_4762+58delinsTCTATC
XM_017018291.1:c.4762+53_4762+58delinsTCTATC	XP_016873780.1:n.4762+53_4762+58delinsTCTATC
XM_017018292.1:c.4144+53_4144+58delinsTCTATC	XP_016873781.1:n.4144+53_4144+58delinsTCTATC
XM_017018293.1:c.4762+53_4762+58delinsTCTATC	XP_016873782.1:n.4762+53_4762+58delinsTCTATC
NM_001377.3:c.4762+53_4762+58delinsTCTATC MANE Select	NP_001368.2:n.4762+53_4762+58delinsTCTATC
NM_001080463.2:c.4762+53_4762+58delinsTCTATC MANE Plus Clinical	NP_001073932.1:n.4762+53_4762+58delinsTCTATC