Canonical Allele Identifier: CA2576470977

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536811_23536812insGAGCCATGAAGTACG , CM000680.2:g.23536811_23536812insGAGCCATGAAGTACG	GRCh38
NC_000018.9:g.21116775_21116776insGAGCCATGAAGTACG , CM000680.1:g.21116775_21116776insGAGCCATGAAGTACG	GRCh37
NC_000018.8:g.19370773_19370774insGAGCCATGAAGTACG	NCBI36
NG_012795.1:g.54817_54818insGCTCCGTACTTCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3117_3118insGCTCCGTACTTCATG MANE Select	ENSP00000269228.4:p.Met1039_Thr1040insAlaProTyrPheMet
ENST00000269228.9:c.3117_3118insGCTCCGTACTTCATG	ENSP00000269228.4:p.Met1039_Thr1040insAlaProTyrPheMet
ENST00000591051.1:c.2195_2196insGCTCCGTACTTCATG
ENST00000591075.1:n.750_751insGCTCCGTACTTCATG
ENST00000591955.1:n.460_461insGCTCCGTACTTCATG
NM_000271.4:c.3117_3118insGCTCCGTACTTCATG	NP_000262.2:p.Met1039_Thr1040insAlaProTyrPheMet
XM_005258277.1:c.3168_3169insGCTCCGTACTTCATG	XP_005258334.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_005258278.3:c.3168_3169insGCTCCGTACTTCATG	XP_005258335.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_005258279.1:c.3117_3118insGCTCCGTACTTCATG	XP_005258336.1:p.Met1039_Thr1040insAlaProTyrPheMet
XM_006722479.2:c.3168_3169insGCTCCGTACTTCATG	XP_006722542.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_011526015.1:c.2703_2704insGCTCCGTACTTCATG	XP_011524317.1:p.Met901_Thr902insAlaProTyrPheMet
XM_005258278.5:c.3168_3169insGCTCCGTACTTCATG	XP_005258335.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_005258279.2:c.3117_3118insGCTCCGTACTTCATG	XP_005258336.1:p.Met1039_Thr1040insAlaProTyrPheMet
XM_006722479.3:c.3168_3169insGCTCCGTACTTCATG	XP_006722542.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_017025784.1:c.3168_3169insGCTCCGTACTTCATG	XP_016881273.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_017025785.1:c.3168_3169insGCTCCGTACTTCATG	XP_016881274.1:p.Met1056_Thr1057insAlaProTyrPheMet
XM_017025786.1:c.3117_3118insGCTCCGTACTTCATG	XP_016881275.1:p.Met1039_Thr1040insAlaProTyrPheMet
XM_017025787.1:c.3117_3118insGCTCCGTACTTCATG	XP_016881276.1:p.Met1039_Thr1040insAlaProTyrPheMet
NM_000271.5:c.3117_3118insGCTCCGTACTTCATG MANE Select	NP_000262.2:p.Met1039_Thr1040insAlaProTyrPheMet