Canonical Allele Identifier: CA3265657889
Community Standard Title: NM_005236.3(ERCC4):c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT (p.Leu718ProfsTer4)
Gene: ERCC4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947748_13947749insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT , CM000678.2:g.13947748_13947749insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT GRCh38
NC_000016.9:g.14041605_14041606insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT , CM000678.1:g.14041605_14041606insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT GRCh37
NC_000016.8:g.13949106_13949107insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT NCBI36
NG_011442.1:g.32592_32593insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT , LRG_463:g.32592_32593insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT MANE Select NP_005227.1:p.Leu718ProfsTer4
ENST00000311895.8:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT MANE Select ENSP00000310520.7:p.Leu718ProfsTer4
NM_005236.2:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT , LRG_463t1:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT NP_005227.1:p.Leu718ProfsTer4
ENST00000311895.7:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT ENSP00000310520.7:p.Leu718ProfsTer4
ENST00000389138.7:n.1429_1430insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT
ENST00000462862.1:c.465_466insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT ENSP00000461322.1:n.465_466insCATCCCAATAGAATGTAAGCTCTTTCAAGGT...
ENST00000682617.1:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT ENSP00000507912.1:p.Leu764ProfsTer4
ENST00000683962.1:c.*1846_*1847insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT ENSP00000506854.1:n.*1846_*1847insCATCCCAATAGAATGTAAGCTCTTTCA...
XM_011522424.1:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_011520726.1:p.Leu764ProfsTer4
XM_011522424.3:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_011520726.1:p.Leu764ProfsTer4
XM_011522425.1:c.1609_1610insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_011520727.1:p.Leu537ProfsTer4
XM_011522426.1:c.1363_1364insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_011520728.1:p.Leu455ProfsTer4
XM_011522427.1:c.802_803insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_011520729.1:p.Leu268ProfsTer4
XM_017023043.2:c.1363_1364insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT XP_016878532.1:p.Leu455ProfsTer4
XR_932805.1:n.2311_2312insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT
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