Canonical Allele Identifier: CA2664934083

Gene: CRTAP

Linked Data

• gnomAD v4: 3-33114306-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114307dup , CM000665.2:g.33114307dup	GRCh38
NC_000003.11:g.33155799dup , CM000665.1:g.33155799dup	GRCh37
NC_000003.10:g.33130803dup	NCBI36
NG_008122.1:g.5350dup , LRG_4:g.5350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320954.11:c.230dup MANE Select	ENSP00000323696.5:p.Arg78AlafsTer?
ENST00000320954.10:c.230dup	ENSP00000323696.5:p.Arg78AlafsTer?
ENST00000449224.1:c.230dup	ENSP00000409997.1:p.Arg78AlafsTer?
NM_006371.4:c.230dup , LRG_4t1:c.230dup	NP_006362.1:p.Arg78AlafsTer?
NM_006371.5:c.230dup MANE Select	NP_006362.1:p.Arg78AlafsTer?
NM_001393363.1:c.230dup	NP_001380292.1:p.Arg78AlafsTer?
NM_001393364.1:c.230dup	NP_001380293.1:p.Arg78AlafsTer?
NM_001393365.1:c.230dup	NP_001380294.1:p.Arg78AlafsTer?