Canonical Allele Identifier: CA2838514838

Gene: DHX30

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848240dup , CM000665.2:g.47848240dup	GRCh38
NC_000003.11:g.47889730dup , CM000665.1:g.47889730dup	GRCh37
NC_000003.10:g.47864734dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2347dup MANE Select	ENSP00000405620.1:p.Ala783GlyfsTer?
ENST00000348968.8:c.2263dup	ENSP00000343442.4:p.Ala755GlyfsTer?
ENST00000395745.6:c.*2247dup	ENSP00000379094.2:n.*2247dup
ENST00000445061.5:c.2347dup	ENSP00000405620.1:p.Ala783GlyfsTer?
ENST00000446256.6:c.2347dup	ENSP00000392601.3:p.Ala783GlyfsTer?
ENST00000457607.1:c.2431dup	ENSP00000394682.1:p.Ala811GlyfsTer?
ENST00000474183.1:n.464dup
ENST00000619982.4:c.2230dup	ENSP00000483160.1:p.Ala744GlyfsTer?
NM_014966.3:c.2230dup	NP_055781.2:p.Ala744GlyfsTer?
NM_138615.2:c.2347dup	NP_619520.1:p.Ala783GlyfsTer?
XM_006713033.1:c.2251dup	XP_006713096.1:p.Ala751GlyfsTer?
XM_011533490.1:c.2560dup	XP_011531792.1:p.Ala854GlyfsTer?
XM_011533491.1:c.2560dup	XP_011531793.1:p.Ala854GlyfsTer?
XM_011533492.1:c.2560dup	XP_011531794.1:p.Ala854GlyfsTer?
XM_011533493.1:c.2449dup	XP_011531795.1:p.Ala817GlyfsTer?
XM_011533494.1:c.2347dup	XP_011531796.1:p.Ala783GlyfsTer?
XM_011533495.1:c.2347dup	XP_011531797.1:p.Ala783GlyfsTer?
XM_011533496.1:c.2263dup	XP_011531798.1:p.Ala755GlyfsTer?
XM_011533497.1:c.2263dup	XP_011531799.1:p.Ala755GlyfsTer?
XM_011533498.1:c.2263dup	XP_011531800.1:p.Ala755GlyfsTer?
NM_001330990.1:c.2263dup	NP_001317919.1:p.Ala755GlyfsTer?
XM_011533490.2:c.2560dup	XP_011531792.1:p.Ala854GlyfsTer?
XM_011533494.3:c.2347dup	XP_011531796.1:p.Ala783GlyfsTer?
XM_011533495.2:c.2347dup	XP_011531797.1:p.Ala783GlyfsTer?
XM_011533497.2:c.2263dup	XP_011531799.1:p.Ala755GlyfsTer?
XM_017005914.1:c.2479dup	XP_016861403.1:p.Ala827GlyfsTer?
XM_017005915.1:c.2251dup	XP_016861404.1:p.Ala751GlyfsTer?
XM_017005916.2:c.2236dup	XP_016861405.1:p.Ala746GlyfsTer?
XM_017005917.1:c.2230dup	XP_016861406.1:p.Ala744GlyfsTer?
XM_024453405.1:c.2449dup	XP_024309173.1:p.Ala817GlyfsTer?
NM_138615.3:c.2347dup MANE Select	NP_619520.1:p.Ala783GlyfsTer?
NM_001330990.2:c.2263dup	NP_001317919.1:p.Ala755GlyfsTer?
NM_014966.4:c.2230dup	NP_055781.2:p.Ala744GlyfsTer?