Canonical Allele Identifier: CA628677504

Gene: NPC1

Linked Data

• dbSNP Id: rs1209758223
• gnomAD v2: 18-21114930-TTTAATGA-T
• gnomAD v3: 18-23534966-TTTAATGA-T
• gnomAD v4: 18-23534966-TTTAATGA-T
• MyVariant Identifiers: chr18:g.21114931_21114937del (hg19) ; chr18:g.23534967_23534973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534971_23534977del , CM000680.2:g.23534971_23534977del	GRCh38
NC_000018.9:g.21114935_21114941del , CM000680.1:g.21114935_21114941del	GRCh37
NC_000018.8:g.19368933_19368939del	NCBI36
NG_012795.1:g.56645_56651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3478-414_3478-408del MANE Select	ENSP00000269228.4:n.3478-414_3478-408del
ENST00000269228.9:c.3478-414_3478-408del	ENSP00000269228.4:n.3478-414_3478-408del
ENST00000586150.5:c.233-414_233-408del
ENST00000588867.1:n.233-414_233-408del
ENST00000591051.1:c.2556-414_2556-408del
ENST00000591107.6:c.155-414_155-408del
NM_000271.4:c.3478-414_3478-408del	NP_000262.2:n.3478-414_3478-408del
XM_005258277.1:c.3529-414_3529-408del	XP_005258334.1:n.3529-414_3529-408del
XM_005258278.3:c.3529-414_3529-408del	XP_005258335.1:n.3529-414_3529-408del
XM_005258279.1:c.3478-414_3478-408del	XP_005258336.1:n.3478-414_3478-408del
XM_006722479.2:c.3529-414_3529-408del	XP_006722542.1:n.3529-414_3529-408del
XM_011526015.1:c.3064-414_3064-408del	XP_011524317.1:n.3064-414_3064-408del
XM_005258278.5:c.3529-414_3529-408del	XP_005258335.1:n.3529-414_3529-408del
XM_005258279.2:c.3478-414_3478-408del	XP_005258336.1:n.3478-414_3478-408del
XM_006722479.3:c.3529-414_3529-408del	XP_006722542.1:n.3529-414_3529-408del
XM_017025784.1:c.3529-414_3529-408del	XP_016881273.1:n.3529-414_3529-408del
XM_017025785.1:c.3529-414_3529-408del	XP_016881274.1:n.3529-414_3529-408del
XM_017025786.1:c.3478-414_3478-408del	XP_016881275.1:n.3478-414_3478-408del
XM_017025787.1:c.3478-414_3478-408del	XP_016881276.1:n.3478-414_3478-408del
NM_000271.5:c.3478-414_3478-408del MANE Select	NP_000262.2:n.3478-414_3478-408del