Canonical Allele Identifier: CA204687

Gene: CLTC PTRH2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59677129_59677130dup , CM000679.2:g.59677129_59677130dup	GRCh38
NC_000017.10:g.57754490_57754491dup , CM000679.1:g.57754490_57754491dup	GRCh37
NC_000017.9:g.55109272_55109273dup	NCBI36
NG_047043.1:g.62441_62442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472651.6:c.2737_2738dup (CLTC)	ENSP00000465200.2:p.Asp913GlufsTer?
ENST00000475458.2:c.88_89dup (CLTC)	ENSP00000461977.2:p.Asp30GlufsTer?
ENST00000580081.2:c.2749_2750dup (CLTC)	ENSP00000462592.2:p.Asp917GlufsTer?
ENST00000700707.1:c.2737_2738dup (CLTC)	ENSP00000515147.1:p.Asp913GlufsTer?
ENST00000700708.1:c.2563_2564dup (CLTC)	ENSP00000515148.1:p.Asp855GlufsTer?
ENST00000700709.1:c.2752_2753dup (CLTC)	ENSP00000515149.1:p.Asp918GlufsTer?
ENST00000700710.1:c.2449_2450dup (CLTC)	ENSP00000515150.1:p.Asp817GlufsTer?
ENST00000700711.1:c.2749_2750dup (CLTC)	ENSP00000515151.1:p.Asp917GlufsTer?
ENST00000700712.1:c.2644_2645dup (CLTC)	ENSP00000515152.1:p.Asp882GlufsTer?
ENST00000700713.1:c.2740_2741dup (CLTC)	ENSP00000515153.1:p.Asp914GlufsTer?
ENST00000700714.1:c.2239_2240dup (CLTC)	ENSP00000515154.1:p.Asp747GlufsTer?
ENST00000269122.8:c.2737_2738dup (CLTC) MANE Select	ENSP00000269122.3:p.Asp913GlufsTer?
ENST00000269122.7:c.2737_2738dup (CLTC)	ENSP00000269122.3:p.Asp913GlufsTer?
ENST00000393043.5:c.2737_2738dup (CLTC)	ENSP00000376763.1:p.Asp913GlufsTer?
ENST00000579456.5:c.301-5189_301-5188dup (CLTC)	ENSP00000462252.1:n.301-5189_301-5188dup
ENST00000579815.1:n.597_598dup (CLTC)
ENST00000587935.1:n.223+2242_223+2243dup (PTRH2)
ENST00000621829.4:c.2749_2750dup (CLTC)	ENSP00000479606.1:p.Asp917GlufsTer?
NM_001288653.1:c.2749_2750dup (CLTC)	NP_001275582.1:p.Asp917GlufsTer?
NM_004859.3:c.2737_2738dup (CLTC)	NP_004850.1:p.Asp913GlufsTer?
XM_005257012.2:c.2737_2738dup (CLTC)	XP_005257069.1:p.Asp913GlufsTer?
XM_011524279.1:c.2737_2738dup (CLTC)	XP_011522581.1:p.Asp913GlufsTer?
XM_011524280.1:c.2644_2645dup (CLTC)	XP_011522582.1:p.Asp882GlufsTer?
XM_011524281.1:c.2737_2738dup (CLTC)	XP_011522583.1:p.Asp913GlufsTer?
XM_005257012.4:c.2737_2738dup (CLTC)	XP_005257069.1:p.Asp913GlufsTer?
NM_004859.4:c.2737_2738dup (CLTC) MANE Select	NP_004850.1:p.Asp913GlufsTer?
NM_001288653.2:c.2749_2750dup (CLTC)	NP_001275582.1:p.Asp917GlufsTer?