Canonical Allele Identifier: CA615021897
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1481522094
gnomAD v2: 14-74960122-C-CCCGGCTCCGGAAAG
gnomAD v3: 14-74493419-C-CCCGGCTCCGGAAAG
gnomAD v4: 14-74493419-C-CCCGGCTCCGGAAAG
MyVariant Identifiers: chr14:g.74960122_74960123insCCGGCTCCGGAAAG (hg19) chr14:g.74493419_74493420insCCGGCTCCGGAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493422_74493435dup , CM000676.2:g.74493422_74493435dup GRCh38
NC_000014.8:g.74960125_74960138dup , CM000676.1:g.74960125_74960138dup GRCh37
NC_000014.7:g.74029878_74029891dup NCBI36
NG_007117.1:g.4949_4962dup
NG_033074.1:g.4703_4716dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-96_-63-83dup ENSP00000450887.1:n.-63-96_-63-83dup
ENST00000555619.5:c.-159_-146dup ENSP00000451112.1:n.-159_-146dup
ENST00000556009.5:c.147+598_147+611dup
NM_001363688.1:c.-159_-146dup NP_001350617.1:n.-159_-146dup
NM_006432.4:c.-159_-146dup NP_006423.1:n.-159_-146dup
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