Canonical Allele Identifier: CA2740404280

Gene: CRTAP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114332_33114333insTGAAACCTGTTTCAACTCCCACTGTT , CM000665.2:g.33114332_33114333insTGAAACCTGTTTCAACTCCCACTGTT	GRCh38
NC_000003.11:g.33155824_33155825insTGAAACCTGTTTCAACTCCCACTGTT , CM000665.1:g.33155824_33155825insTGAAACCTGTTTCAACTCCCACTGTT	GRCh37
NC_000003.10:g.33130828_33130829insTGAAACCTGTTTCAACTCCCACTGTT	NCBI36
NG_008122.1:g.5375_5376insTGAAACCTGTTTCAACTCCCACTGTT , LRG_4:g.5375_5376insTGAAACCTGTTTCAACTCCCACTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320954.11:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT MANE Select	ENSP00000323696.5:p.Arg86Ter
ENST00000320954.10:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	ENSP00000323696.5:p.Arg86Ter
ENST00000449224.1:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	ENSP00000409997.1:p.Arg86Ter
NM_006371.4:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT , LRG_4t1:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	NP_006362.1:p.Arg86Ter
NM_006371.5:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT MANE Select	NP_006362.1:p.Arg86Ter
NM_001393363.1:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	NP_001380292.1:p.Arg86Ter
NM_001393364.1:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	NP_001380293.1:p.Arg86Ter
NM_001393365.1:c.255_256insTGAAACCTGTTTCAACTCCCACTGTT	NP_001380294.1:p.Arg86Ter