Canonical Allele Identifier: CA2641273811

Gene: NPC1

Linked Data

• gnomAD v4: 18-23556120-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556122del , CM000680.2:g.23556122del	GRCh38
NC_000018.9:g.21136086del , CM000680.1:g.21136086del	GRCh37
NC_000018.8:g.19390084del	NCBI36
NG_012795.1:g.35497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1326+122del MANE Select	ENSP00000269228.4:n.1326+122del
ENST00000269228.9:c.1326+122del	ENSP00000269228.4:n.1326+122del
ENST00000540608.5:n.1240+122del
ENST00000591051.1:c.608+122del
NM_000271.4:c.1326+122del	NP_000262.2:n.1326+122del
XM_005258277.1:c.1377+122del	XP_005258334.1:n.1377+122del
XM_005258278.3:c.1377+122del	XP_005258335.1:n.1377+122del
XM_005258279.1:c.1326+122del	XP_005258336.1:n.1326+122del
XM_006722479.2:c.1377+122del	XP_006722542.1:n.1377+122del
XM_011526015.1:c.912+122del	XP_011524317.1:n.912+122del
XM_005258278.5:c.1377+122del	XP_005258335.1:n.1377+122del
XM_005258279.2:c.1326+122del	XP_005258336.1:n.1326+122del
XM_006722479.3:c.1377+122del	XP_006722542.1:n.1377+122del
XM_017025784.1:c.1377+122del	XP_016881273.1:n.1377+122del
XM_017025785.1:c.1377+122del	XP_016881274.1:n.1377+122del
XM_017025786.1:c.1326+122del	XP_016881275.1:n.1326+122del
XM_017025787.1:c.1326+122del	XP_016881276.1:n.1326+122del
NM_000271.5:c.1326+122del MANE Select	NP_000262.2:n.1326+122del