Canonical Allele Identifier: CA2641272476

Gene: NPC1

Linked Data

• gnomAD v4: 18-23551750-C-CACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551750_23551751insACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT , CM000680.2:g.23551750_23551751insACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT	GRCh38
NC_000018.9:g.21131714_21131715insACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT , CM000680.1:g.21131714_21131715insACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT	GRCh37
NC_000018.8:g.19385712_19385713insACTGTAAGAGTGTCCAAATACTCAACTGACTGGCTTAGAAGAAAAAAAATCCATCAACTTTGTTT	NCBI36
NG_012795.1:g.39867_39868insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT MANE Select	ENSP00000269228.4:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTT...
ENST00000269228.9:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	ENSP00000269228.4:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTT...
ENST00000540608.5:n.1468-24_1468-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT
ENST00000590301.1:n.229-24_229-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT
ENST00000591051.1:c.835+3007_835+3008insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT
NM_000271.4:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	NP_000262.2:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCT...
XM_005258277.1:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_005258334.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_005258278.3:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_005258335.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_005258279.1:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_005258336.1:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_006722479.2:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_006722542.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_011526015.1:c.1140-24_1140-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_011524317.1:n.1140-24_1140-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_005258278.5:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_005258335.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_005258279.2:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_005258336.1:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_006722479.3:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_006722542.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_017025784.1:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_016881273.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_017025785.1:c.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_016881274.1:n.1605-24_1605-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_017025786.1:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_016881275.1:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCT...
XM_017025787.1:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT	XP_016881276.1:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCT...
NM_000271.5:c.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCTAAGCCAGTCAGTTGAGTATTTGGACACTCTTACAGT MANE Select	NP_000262.2:n.1554-24_1554-23insAAACAAAGTTGATGGATTTTTTTTCTTCT...