Canonical Allele Identifier: CA658798930

Gene: CLTC PTRH2

Linked Data

• ClinVar Variation Id: 504135
• ClinVar RCV Id: RCV000598613
• dbSNP Id: rs1555607332
• MyVariant Identifiers: chr17:g.57760029_57760031del (hg19) ; chr17:g.59682668_59682670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59682668_59682670del , CM000679.2:g.59682668_59682670del	GRCh38
NC_000017.10:g.57760029_57760031del , CM000679.1:g.57760029_57760031del	GRCh37
NC_000017.9:g.55114811_55114813del	NCBI36
NG_047043.1:g.67980_67982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472651.6:c.3640_3642del (CLTC)	ENSP00000465200.2:p.Ala1214del
ENST00000475458.2:c.991_993del (CLTC)	ENSP00000461977.2:p.Ala331del
ENST00000580081.2:c.3652_3654del (CLTC)	ENSP00000462592.2:p.Ala1218del
ENST00000700707.1:c.3640_3642del (CLTC)	ENSP00000515147.1:p.Ala1214del
ENST00000700708.1:c.3466_3468del (CLTC)	ENSP00000515148.1:p.Ala1156del
ENST00000700709.1:c.3655_3657del (CLTC)	ENSP00000515149.1:p.Ala1219del
ENST00000700710.1:c.3352_3354del (CLTC)	ENSP00000515150.1:p.Ala1118del
ENST00000700711.1:c.3652_3654del (CLTC)	ENSP00000515151.1:p.Ala1218del
ENST00000700712.1:c.3547_3549del (CLTC)	ENSP00000515152.1:p.Ala1183del
ENST00000700713.1:c.3643_3645del (CLTC)	ENSP00000515153.1:p.Ala1215del
ENST00000700714.1:c.3142_3144del (CLTC)	ENSP00000515154.1:p.Ala1048del
ENST00000269122.8:c.3640_3642del (CLTC) MANE Select	ENSP00000269122.3:p.Ala1214del
ENST00000269122.7:c.3640_3642del (CLTC)	ENSP00000269122.3:p.Ala1214del
ENST00000393043.5:c.3640_3642del (CLTC)	ENSP00000376763.1:p.Ala1214del
ENST00000579456.5:c.451_453del (CLTC)	ENSP00000462252.1:p.Ala151del
ENST00000587935.1:n.46-3122_46-3120del (PTRH2)
ENST00000621829.4:c.3652_3654del (CLTC)	ENSP00000479606.1:p.Ala1218del
NM_001288653.1:c.3652_3654del (CLTC)	NP_001275582.1:p.Ala1218del
NM_004859.3:c.3640_3642del (CLTC)	NP_004850.1:p.Ala1214del
XM_005257012.2:c.3640_3642del (CLTC)	XP_005257069.1:p.Ala1214del
XM_011524279.1:c.3640_3642del (CLTC)	XP_011522581.1:p.Ala1214del
XM_011524280.1:c.3547_3549del (CLTC)	XP_011522582.1:p.Ala1183del
XM_011524281.1:c.3640_3642del (CLTC)	XP_011522583.1:p.Ala1214del
XM_005257012.4:c.3640_3642del (CLTC)	XP_005257069.1:p.Ala1214del
NM_004859.4:c.3640_3642del (CLTC) MANE Select	NP_004850.1:p.Ala1214del
NM_001288653.2:c.3652_3654del (CLTC)	NP_001275582.1:p.Ala1218del