Canonical Allele Identifier: CA2664934389

Gene: CRTAP

Linked Data

• gnomAD v4: 3-33114569-CCCAGGCCCCGGCCCCGCCCCTGACCCAGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114578_33114608del , CM000665.2:g.33114578_33114608del	GRCh38
NC_000003.11:g.33156070_33156100del , CM000665.1:g.33156070_33156100del	GRCh37
NC_000003.10:g.33131074_33131104del	NCBI36
NG_008122.1:g.5621_5651del , LRG_4:g.5621_5651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320954.11:c.471+30_471+60del MANE Select	ENSP00000323696.5:n.471+30_471+60del
ENST00000320954.10:c.471+30_471+60del	ENSP00000323696.5:n.471+30_471+60del
ENST00000449224.1:c.471+30_471+60del	ENSP00000409997.1:n.471+30_471+60del
NM_006371.4:c.471+30_471+60del , LRG_4t1:c.471+30_471+60del	NP_006362.1:n.471+30_471+60del
NM_006371.5:c.471+30_471+60del MANE Select	NP_006362.1:n.471+30_471+60del
NM_001393363.1:c.471+30_471+60del	NP_001380292.1:n.471+30_471+60del
NM_001393364.1:c.471+30_471+60del	NP_001380293.1:n.471+30_471+60del
NM_001393365.1:c.471+30_471+60del	NP_001380294.1:n.471+30_471+60del