Canonical Allele Identifier: CA2290173603

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556129_23556130delinsCA , CM000680.2:g.23556129_23556130delinsCA	GRCh38
NC_000018.9:g.21136093_21136094delinsCA , CM000680.1:g.21136093_21136094delinsCA	GRCh37
NC_000018.8:g.19390091_19390092delinsCA	NCBI36
NG_012795.1:g.35488_35489delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1326+113_1326+114delinsTG MANE Select	ENSP00000269228.4:n.1326+113_1326+114delinsTG
ENST00000269228.9:c.1326+113_1326+114delinsTG	ENSP00000269228.4:n.1326+113_1326+114delinsTG
ENST00000540608.5:n.1240+113_1240+114delinsTG
ENST00000591051.1:c.608+113_608+114delinsTG
NM_000271.4:c.1326+113_1326+114delinsTG	NP_000262.2:n.1326+113_1326+114delinsTG
XM_005258277.1:c.1377+113_1377+114delinsTG	XP_005258334.1:n.1377+113_1377+114delinsTG
XM_005258278.3:c.1377+113_1377+114delinsTG	XP_005258335.1:n.1377+113_1377+114delinsTG
XM_005258279.1:c.1326+113_1326+114delinsTG	XP_005258336.1:n.1326+113_1326+114delinsTG
XM_006722479.2:c.1377+113_1377+114delinsTG	XP_006722542.1:n.1377+113_1377+114delinsTG
XM_011526015.1:c.912+113_912+114delinsTG	XP_011524317.1:n.912+113_912+114delinsTG
XM_005258278.5:c.1377+113_1377+114delinsTG	XP_005258335.1:n.1377+113_1377+114delinsTG
XM_005258279.2:c.1326+113_1326+114delinsTG	XP_005258336.1:n.1326+113_1326+114delinsTG
XM_006722479.3:c.1377+113_1377+114delinsTG	XP_006722542.1:n.1377+113_1377+114delinsTG
XM_017025784.1:c.1377+113_1377+114delinsTG	XP_016881273.1:n.1377+113_1377+114delinsTG
XM_017025785.1:c.1377+113_1377+114delinsTG	XP_016881274.1:n.1377+113_1377+114delinsTG
XM_017025786.1:c.1326+113_1326+114delinsTG	XP_016881275.1:n.1326+113_1326+114delinsTG
XM_017025787.1:c.1326+113_1326+114delinsTG	XP_016881276.1:n.1326+113_1326+114delinsTG
NM_000271.5:c.1326+113_1326+114delinsTG MANE Select	NP_000262.2:n.1326+113_1326+114delinsTG