Canonical Allele Identifier: CA628677790

Gene: NPC1

Linked Data

• gnomAD v2: 18-21118633-C-CTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT
• MyVariant Identifiers: chr18:g.21118633_21118634insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538669_23538670insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT , CM000680.2:g.23538669_23538670insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT	GRCh38
NC_000018.9:g.21118633_21118634insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT , CM000680.1:g.21118633_21118634insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT	GRCh37
NC_000018.8:g.19372631_19372632insTGCGTTCATTCTCATGCCCAGGGGGCCAGGACACAGAGAGAGCATGAGATGTGAATGCCCACGCTAAGACAGAAT	NCBI36
NG_012795.1:g.52948_52949insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
ENST00000269228.9:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
ENST00000591051.1:c.1991_1992insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
ENST00000591075.1:n.546_547insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
ENST00000591955.1:n.256_257insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
NM_000271.4:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_005258277.1:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_005258278.3:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_005258279.1:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_006722479.2:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_011526015.1:c.2499_2500insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_005258278.5:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_005258279.2:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_006722479.3:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_017025784.1:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_017025785.1:c.2964_2965insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_017025786.1:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
XM_017025787.1:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA
NM_000271.5:c.2913_2914insATTCTGTCTTAGCGTGGGCATTCACATCTCATGCTCTCTCTGTGTCCTGGCCCCCTGGGCATGAGAATGAACGCA