Canonical Allele Identifier: CA625779336

Gene: NSRP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30185269dup , CM000679.2:g.30185269dup	GRCh38
NC_000017.10:g.28512287dup , CM000679.1:g.28512287dup	GRCh37
NC_000017.9:g.25536413dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032141.4:c.1272dup MANE Select	NP_115517.1:p.Lys425GlufsTer5
ENST00000247026.10:c.1272dup MANE Select	ENSP00000247026.5:p.Lys425GlufsTer5
NM_001261467.1:c.1110dup	NP_001248396.1:p.Lys371GlufsTer5
NM_001261467.2:c.1110dup	NP_001248396.1:p.Lys371GlufsTer5
NM_032141.3:c.1272dup	NP_115517.1:p.Lys425GlufsTer5
ENST00000247026.9:c.1272dup	ENSP00000247026.5:p.Lys425GlufsTer5
ENST00000394826.8:c.*1148dup	ENSP00000378303.4:n.*1148dup
ENST00000540900.7:n.1479dup
ENST00000612959.4:c.1110dup	ENSP00000477862.1:p.Lys371GlufsTer5
XM_011525345.1:c.1209dup	XP_011523647.1:p.Lys404GlufsTer5
XM_011525345.2:c.1209dup	XP_011523647.1:p.Lys404GlufsTer5