Canonical Allele Identifier: CA1327642247
Gene: MREG HGNC NCBI
PECR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028779_216028781delinsGAA , CM000664.2:g.216028779_216028781delinsGAA GRCh38
NC_000002.11:g.216893502_216893504delinsGAA , CM000664.1:g.216893502_216893504delinsGAA GRCh37
NC_000002.10:g.216601747_216601749delinsGAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+4008_-68+4010delinsTTC (MREG) ENSP00000404470.1:n.-68+4008_-68+4010delinsTTC
ENST00000424992.5:c.-68+5181_-68+5183delinsTTC (MREG) ENSP00000413302.1:n.-68+5181_-68+5183delinsTTC
ENST00000439791.5:c.-68+4902_-68+4904delinsTTC (MREG) ENSP00000411076.1:n.-68+4902_-68+4904delinsTTC
ENST00000442122.5:c.*440+10410_*440+10412delinsTTC (PECR) ENSP00000395512.1:n.*440+10410_*440+10412delinsTTC
NM_001372189.1:c.-68+5181_-68+5183delinsTTC (MREG) NP_001359118.1:n.-68+5181_-68+5183delinsTTC
NM_001372190.1:c.-68+4902_-68+4904delinsTTC (MREG) NP_001359119.1:n.-68+4902_-68+4904delinsTTC
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