Canonical Allele Identifier: CA1189448552
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112708176_112708178delinsGCA , CM000663.2:g.112708176_112708178delinsGCA GRCh38
NC_000001.10:g.113250798_113250800delinsGCA , CM000663.1:g.113250798_113250800delinsGCA GRCh37
NC_000001.9:g.113052321_113052323delinsGCA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000471038.6:n.428+2282_428+2284delinsTGC
ENST00000605933.5:c.414+2282_414+2284delinsTGC
ENST00000606505.5:c.414+2282_414+2284delinsTGC
ENST00000606954.1:c.350+2282_350+2284delinsTGC
ENST00000607158.5:n.477+2282_477+2284delinsTGC
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