Canonical Allele Identifier: CA2831039474

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493259_74493260insGTTTCCTGGC , CM000676.2:g.74493259_74493260insGTTTCCTGGC	GRCh38
NC_000014.8:g.74959962_74959963insGTTTCCTGGC , CM000676.1:g.74959962_74959963insGTTTCCTGGC	GRCh37
NC_000014.7:g.74029715_74029716insGTTTCCTGGC	NCBI36
NG_007117.1:g.5124_5125insCAGGAAACGC
NG_033074.1:g.4540_4541insGTTTCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.17_18insCAGGAAACGC MANE Select	ENSP00000451112.2:p.Thr7ArgfsTer?
ENST00000238633.6:c.17_18insCAGGAAACGC	ENSP00000238633.2:p.Thr7ArgfsTer?
ENST00000434013.6:c.17_18insCAGGAAACGC	ENSP00000412103.2:p.Thr7ArgfsTer?
ENST00000541064.5:c.17_18insCAGGAAACGC	ENSP00000442488.1:p.Thr7ArgfsTer?
ENST00000553490.5:c.17_18insCAGGAAACGC	ENSP00000451180.1:p.Thr7ArgfsTer?
ENST00000555592.1:c.17_18insCAGGAAACGC	ENSP00000450887.1:p.Thr7ArgfsTer?
ENST00000555619.5:c.17_18insCAGGAAACGC	ENSP00000451112.1:p.Thr7ArgfsTer?
ENST00000556009.5:c.147+773_147+774insCAGGAAACGC
ENST00000557510.5:c.17_18insCAGGAAACGC	ENSP00000451206.1:p.Thr7ArgfsTer?
NM_006432.3:c.17_18insCAGGAAACGC	NP_006423.1:p.Thr7ArgfsTer?
NM_001363688.1:c.17_18insCAGGAAACGC	NP_001350617.1:p.Thr7ArgfsTer?
NM_006432.4:c.17_18insCAGGAAACGC	NP_006423.1:p.Thr7ArgfsTer?
NM_001375440.1:c.17_18insCAGGAAACGC	NP_001362369.1:p.Thr7ArgfsTer?
NM_006432.5:c.17_18insCAGGAAACGC MANE Select	NP_006423.1:p.Thr7ArgfsTer?