Canonical Allele Identifier: CA1356029892
Gene: CRTAP HGNC NCBI

Linked Data

dbSNP Id: rs1701322321

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114580_33114585dup , CM000665.2:g.33114580_33114585dup GRCh38
NC_000003.11:g.33156072_33156077dup , CM000665.1:g.33156072_33156077dup GRCh37
NC_000003.10:g.33131076_33131081dup NCBI36
NG_008122.1:g.5623_5628dup , LRG_4:g.5623_5628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.471+32_471+37dup MANE Select ENSP00000323696.5:n.471+32_471+37dup
ENST00000320954.10:c.471+32_471+37dup ENSP00000323696.5:n.471+32_471+37dup
ENST00000449224.1:c.471+32_471+37dup ENSP00000409997.1:n.471+32_471+37dup
NM_006371.4:c.471+32_471+37dup , LRG_4t1:c.471+32_471+37dup NP_006362.1:n.471+32_471+37dup
NM_006371.5:c.471+32_471+37dup MANE Select NP_006362.1:n.471+32_471+37dup
NM_001393363.1:c.471+32_471+37dup NP_001380292.1:n.471+32_471+37dup
NM_001393364.1:c.471+32_471+37dup NP_001380293.1:n.471+32_471+37dup
NM_001393365.1:c.471+32_471+37dup NP_001380294.1:n.471+32_471+37dup