Canonical Allele Identifier: CA941665646

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1861649825
• gnomAD v3: 11-103173295-AATCT-A
• gnomAD v4: 11-103173295-AATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173301_103173304del , CM000673.2:g.103173301_103173304del	GRCh38
NC_000011.9:g.103044030_103044033del , CM000673.1:g.103044030_103044033del	GRCh37
NC_000011.8:g.102549240_102549243del	NCBI36
NG_016423.1:g.68871_68874del
NG_016423.2:g.68871_68874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5554_5557del MANE Plus Clinical	ENSP00000497174.1:p.Ser1852GlyfsTer4
ENST00000375735.7:c.5554_5557del MANE Select	ENSP00000364887.2:p.Ser1852GlyfsTer4
ENST00000649323.1:c.*3099_*3102del	ENSP00000497581.1:n.*3099_*3102del
ENST00000650373.1:c.5554_5557del	ENSP00000497174.1:p.Ser1852GlyfsTer4
ENST00000334267.11:c.2205+38882_2205+38885del	ENSP00000334021.7:n.2205+38882_2205+38885del
ENST00000375735.6:c.5554_5557del	ENSP00000364887.2:p.Ser1852GlyfsTer4
ENST00000398093.7:c.5554_5557del	ENSP00000381167.3:p.Ser1852GlyfsTer4
NM_001080463.1:c.5554_5557del	NP_001073932.1:p.Ser1852GlyfsTer4
NM_001377.2:c.5554_5557del	NP_001368.2:p.Ser1852GlyfsTer4
XM_006718903.2:c.5554_5557del	XP_006718966.1:p.Ser1852GlyfsTer4
XM_017018291.1:c.5554_5557del	XP_016873780.1:p.Ser1852GlyfsTer4
XM_017018292.1:c.4936_4939del	XP_016873781.1:p.Ser1646GlyfsTer4
XM_017018293.1:c.5554_5557del	XP_016873782.1:p.Ser1852GlyfsTer4
NM_001377.3:c.5554_5557del MANE Select	NP_001368.2:p.Ser1852GlyfsTer4
NM_001080463.2:c.5554_5557del MANE Plus Clinical	NP_001073932.1:p.Ser1852GlyfsTer4