Canonical Allele Identifier: CA777712358

Gene: NPC1

Linked Data

• dbSNP Id: rs1352727282
• MyVariant Identifiers: chr18:g.21112390_21112392del (hg19) ; chr18:g.23532426_23532428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532428_23532430del , CM000680.2:g.23532428_23532430del	GRCh38
NC_000018.9:g.21112392_21112394del , CM000680.1:g.21112392_21112394del	GRCh37
NC_000018.8:g.19366390_19366392del	NCBI36
NG_012795.1:g.59190_59192del
NG_033119.1:g.33959_33961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-144_3755-142del MANE Select	ENSP00000269228.4:n.3755-144_3755-142del
ENST00000269228.9:c.3755-144_3755-142del	ENSP00000269228.4:n.3755-144_3755-142del
ENST00000586150.5:c.509+927_509+929del
ENST00000588867.1:n.1438-144_1438-142del
ENST00000590723.5:c.163+927_163+929del	ENSP00000464755.1:n.163+927_163+929del
ENST00000591051.1:c.2833-144_2833-142del
ENST00000591107.6:c.431+927_431+929del
ENST00000593280.2:c.86+927_86+929del
NM_000271.4:c.3755-144_3755-142del	NP_000262.2:n.3755-144_3755-142del
XM_005258277.1:c.3805+927_3805+929del	XP_005258334.1:n.3805+927_3805+929del
XM_005258278.3:c.3806-144_3806-142del	XP_005258335.1:n.3806-144_3806-142del
XM_005258279.1:c.3754+927_3754+929del	XP_005258336.1:n.3754+927_3754+929del
XM_006722479.2:c.3805+927_3805+929del	XP_006722542.1:n.3805+927_3805+929del
XM_011526015.1:c.3340+927_3340+929del	XP_011524317.1:n.3340+927_3340+929del
XM_005258278.5:c.3806-144_3806-142del	XP_005258335.1:n.3806-144_3806-142del
XM_005258279.2:c.3754+927_3754+929del	XP_005258336.1:n.3754+927_3754+929del
XM_006722479.3:c.3805+927_3805+929del	XP_006722542.1:n.3805+927_3805+929del
XM_017025784.1:c.3805+927_3805+929del	XP_016881273.1:n.3805+927_3805+929del
XM_017025785.1:c.3805+927_3805+929del	XP_016881274.1:n.3805+927_3805+929del
XM_017025786.1:c.3754+927_3754+929del	XP_016881275.1:n.3754+927_3754+929del
XM_017025787.1:c.3754+927_3754+929del	XP_016881276.1:n.3754+927_3754+929del
NM_000271.5:c.3755-144_3755-142del MANE Select	NP_000262.2:n.3755-144_3755-142del