Canonical Allele Identifier: CA1996410793

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1861292005

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103166044_103166045insTT , CM000673.2:g.103166044_103166045insTT	GRCh38
NC_000011.9:g.103036773_103036774insTT , CM000673.1:g.103036773_103036774insTT	GRCh37
NC_000011.8:g.102541983_102541984insTT	NCBI36
NG_016423.1:g.61614_61615insTT
NG_016423.2:g.61614_61615insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4758_4759insTT MANE Plus Clinical	ENSP00000497174.1:p.Thr1587LeufsTer14
ENST00000375735.7:c.4758_4759insTT MANE Select	ENSP00000364887.2:p.Thr1587LeufsTer14
ENST00000649323.1:c.*2303_*2304insTT	ENSP00000497581.1:n.*2303_*2304insTT
ENST00000650373.1:c.4758_4759insTT	ENSP00000497174.1:p.Thr1587LeufsTer14
ENST00000334267.11:c.2205+31625_2205+31626insTT	ENSP00000334021.7:n.2205+31625_2205+31626insTT
ENST00000375735.6:c.4758_4759insTT	ENSP00000364887.2:p.Thr1587LeufsTer14
ENST00000398093.7:c.4758_4759insTT	ENSP00000381167.3:p.Thr1587LeufsTer14
NM_001080463.1:c.4758_4759insTT	NP_001073932.1:p.Thr1587LeufsTer14
NM_001377.2:c.4758_4759insTT	NP_001368.2:p.Thr1587LeufsTer14
XM_006718903.2:c.4758_4759insTT	XP_006718966.1:p.Thr1587LeufsTer14
XM_017018291.1:c.4758_4759insTT	XP_016873780.1:p.Thr1587LeufsTer14
XM_017018292.1:c.4140_4141insTT	XP_016873781.1:p.Thr1381LeufsTer14
XM_017018293.1:c.4758_4759insTT	XP_016873782.1:p.Thr1587LeufsTer14
NM_001377.3:c.4758_4759insTT MANE Select	NP_001368.2:p.Thr1587LeufsTer14
NM_001080463.2:c.4758_4759insTT MANE Plus Clinical	NP_001073932.1:p.Thr1587LeufsTer14