Canonical Allele Identifier: CA658824146

Gene: NPC2

Linked Data

• ClinVar Variation Id: 554877
• ClinVar RCV Id: RCV000670585
• dbSNP Id: rs1555345873
• MyVariant Identifiers: chr14:g.74484585_74484588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484587_74484590del , CM000676.2:g.74484587_74484590del	GRCh38
NC_000014.8:g.74951290_74951293del , CM000676.1:g.74951290_74951293del	GRCh37
NC_000014.7:g.74021043_74021046del	NCBI36
NG_007117.1:g.13794_13797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.191-1_193del
ENST00000238633.6:c.191-1_193del
ENST00000434013.6:c.191-1_193del
ENST00000541064.5:c.191-1_193del
ENST00000553490.5:c.191-1_193del
ENST00000554482.1:c.158+1741_158+1744del	ENSP00000451314.1:n.158+1741_158+1744del
ENST00000555592.1:c.191-1_193del
ENST00000555619.5:c.191-1_193del
ENST00000556009.5:c.256-1_258del
ENST00000557510.5:c.191-1_193del
NM_006432.3:c.191-1_193del
NM_001363688.1:c.191-1_193del
NM_006432.4:c.191-1_193del
NM_001375440.1:c.191-1_193del
NM_006432.5:c.191-1_193del