Canonical Allele Identifier: CA777720432

Gene: NPC1

Linked Data

• dbSNP Id: rs1340840109
• gnomAD v3: 18-23540022-TAGGAGAG-T
• gnomAD v4: 18-23540022-TAGGAGAG-T
• MyVariant Identifiers: chr18:g.21119987_21119993del (hg19) ; chr18:g.23540023_23540029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540025_23540031del , CM000680.2:g.23540025_23540031del	GRCh38
NC_000018.9:g.21119989_21119995del , CM000680.1:g.21119989_21119995del	GRCh37
NC_000018.8:g.19373987_19373993del	NCBI36
NG_012795.1:g.51589_51595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-28_2605-22del MANE Select	ENSP00000269228.4:n.2605-28_2605-22del
ENST00000269228.9:c.2605-28_2605-22del	ENSP00000269228.4:n.2605-28_2605-22del
ENST00000540608.5:n.2519-28_2519-22del
ENST00000586718.1:n.396-28_396-22del
ENST00000591051.1:c.1683-28_1683-22del
NM_000271.4:c.2605-28_2605-22del	NP_000262.2:n.2605-28_2605-22del
XM_005258277.1:c.2656-28_2656-22del	XP_005258334.1:n.2656-28_2656-22del
XM_005258278.3:c.2656-28_2656-22del	XP_005258335.1:n.2656-28_2656-22del
XM_005258279.1:c.2605-28_2605-22del	XP_005258336.1:n.2605-28_2605-22del
XM_006722479.2:c.2656-28_2656-22del	XP_006722542.1:n.2656-28_2656-22del
XM_011526015.1:c.2191-28_2191-22del	XP_011524317.1:n.2191-28_2191-22del
XM_005258278.5:c.2656-28_2656-22del	XP_005258335.1:n.2656-28_2656-22del
XM_005258279.2:c.2605-28_2605-22del	XP_005258336.1:n.2605-28_2605-22del
XM_006722479.3:c.2656-28_2656-22del	XP_006722542.1:n.2656-28_2656-22del
XM_017025784.1:c.2656-28_2656-22del	XP_016881273.1:n.2656-28_2656-22del
XM_017025785.1:c.2656-28_2656-22del	XP_016881274.1:n.2656-28_2656-22del
XM_017025786.1:c.2605-28_2605-22del	XP_016881275.1:n.2605-28_2605-22del
XM_017025787.1:c.2605-28_2605-22del	XP_016881276.1:n.2605-28_2605-22del
NM_000271.5:c.2605-28_2605-22del MANE Select	NP_000262.2:n.2605-28_2605-22del