Canonical Allele Identifier: CA1700817022

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949371_37949402delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA , CM000669.2:g.37949371_37949402delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA GRCh38
NC_000007.13:g.37988973_37989004delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA , CM000669.1:g.37988973_37989004delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA GRCh37
NC_000007.12:g.37955498_37955529delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000199448.9:c.478+323_478+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) MANE Select ENSP00000199448.4:n.478+323_478+354delins...
ENST00000199448.8:c.478+323_478+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) ENSP00000199448.4:n.478+323_478+354delins...
ENST00000423717.1:c.270-829_270-798delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) ENSP00000409211.1:n.270-829_270-798delins...
ENST00000425345.1:c.295+323_295+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) ENSP00000413359.1:n.295+323_295+354delins...
ENST00000447200.2:c.-52-22628_-52-22597delinsTTTAGGAAGTGGGGGAAAGAAAAGGAGGCACC (SFRP4) ENSP00000402262.2:n.-52-22628_-52-22597de...
ENST00000476620.1:c.172+323_172+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) ENSP00000425858.1:n.172+323_172+354delins...
NM_001242946.1:c.270-829_270-798delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) NP_001229875.2:n.270-829_270-798delinsGGT...
NM_001242948.1:c.295+323_295+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) NP_001229877.1:n.295+323_295+354delinsGGT...
NM_017549.4:c.478+323_478+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) NP_060019.2:n.478+323_478+354delinsGGTGCC...
NM_017549.5:c.478+323_478+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) MANE Select NP_060019.2:n.478+323_478+354delinsGGTGCC...
NM_001242946.2:c.270-829_270-798delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) NP_001229875.2:n.270-829_270-798delinsGGT...
NM_001242948.2:c.295+323_295+354delinsGGTGCCTCCTTTTCTTTCCCCCACTTCCTAAA (EPDR1) NP_001229877.1:n.295+323_295+354delinsGGT...