Canonical Allele Identifier: CA1259891143

Gene: MCEE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124029_71124129delinsCTAAAGGGAAAAGAAATGTATGTAAGGATCCACCTTTGAGGAGGATGAATATTATCATTCTCCTTAAAGAACTTTACAAAAGTTTCTAATGACAGTGACCA , CM000664.2:g.71124029_71124129delinsCTAAAGGGAAAAGAAATGTATGTAAGGATCCACCTTTGAGGAGGATGAATATTATCATTCTCCTTAAAGAACTTTACAAAAGTTTCTAATGACAGTGACCA	GRCh38
NC_000002.11:g.71351159_71351259delinsCTAAAGGGAAAAGAAATGTATGTAAGGATCCACCTTTGAGGAGGATGAATATTATCATTCTCCTTAAAGAACTTTACAAAAGTTTCTAATGACAGTGACCA , CM000664.1:g.71351159_71351259delinsCTAAAGGGAAAAGAAATGTATGTAAGGATCCACCTTTGAGGAGGATGAATATTATCATTCTCCTTAAAGAACTTTACAAAAGTTTCTAATGACAGTGACCA	GRCh37
NC_000002.10:g.71204667_71204767delinsCTAAAGGGAAAAGAAATGTATGTAAGGATCCACCTTTGAGGAGGATGAATATTATCATTCTCCTTAAAGAACTTTACAAAAGTTTCTAATGACAGTGACCA	NCBI36
NG_008977.1:g.11136_11236delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG MANE Select	ENSP00000244217.5:n.378+77_378+177delinsTGGTCACTGTCATTAGAAACT...
ENST00000244217.5:c.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG	ENSP00000244217.5:n.378+77_378+177delinsTGGTCACTGTCATTAGAAACT...
ENST00000413592.5:c.84+239_84+339delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG	ENSP00000391140.1:n.84+239_84+339delinsTGGTCACTGTCATTAGAAACTT...
NM_032601.3:c.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG	NP_115990.3:n.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTA...
XM_005264613.2:c.216+239_216+339delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG	XP_005264670.1:n.216+239_216+339delinsTGGTCACTGTCATTAGAAACTTT...
XR_939729.1:n.447+77_447+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG
XR_939729.2:n.447+77_447+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG
NM_032601.4:c.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTAAAGTTCTTTAAGGAGAATGATAATATTCATCCTCCTCAAAGGTGGATCCTTACATACATTTCTTTTCCCTTTAG MANE Select	NP_115990.3:n.378+77_378+177delinsTGGTCACTGTCATTAGAAACTTTTGTA...