Canonical Allele Identifier: CA2664934104
Gene: CRTAP HGNC NCBI

Linked Data

gnomAD v4: 3-33114349-CGCCGCAGCCCGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114353_33114364del , CM000665.2:g.33114353_33114364del GRCh38
NC_000003.11:g.33155845_33155856del , CM000665.1:g.33155845_33155856del GRCh37
NC_000003.10:g.33130849_33130860del NCBI36
NG_008122.1:g.5396_5407del , LRG_4:g.5396_5407del

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.276_287del MANE Select ENSP00000323696.5:p.Gln93_Pro96del
ENST00000320954.10:c.276_287del ENSP00000323696.5:p.Gln93_Pro96del
ENST00000449224.1:c.276_287del ENSP00000409997.1:p.Gln93_Pro96del
NM_006371.4:c.276_287del , LRG_4t1:c.276_287del NP_006362.1:p.Gln93_Pro96del
NM_006371.5:c.276_287del MANE Select NP_006362.1:p.Gln93_Pro96del
NM_001393363.1:c.276_287del NP_001380292.1:p.Gln93_Pro96del
NM_001393364.1:c.276_287del NP_001380293.1:p.Gln93_Pro96del
NM_001393365.1:c.276_287del NP_001380294.1:p.Gln93_Pro96del
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