Canonical Allele Identifier: CA2529819337

Gene: MMUT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459293_49459294insGTGAGATTTTAATGTAAGACATAATATTTATGA , CM000668.2:g.49459293_49459294insGTGAGATTTTAATGTAAGACATAATATTTATGA	GRCh38
NC_000006.11:g.49427006_49427007insGTGAGATTTTAATGTAAGACATAATATTTATGA , CM000668.1:g.49427006_49427007insGTGAGATTTTAATGTAAGACATAATATTTATGA	GRCh37
NC_000006.10:g.49534965_49534966insGTGAGATTTTAATGTAAGACATAATATTTATGA	NCBI36
NG_007100.1:g.8846_8847insTCATAAATATTATGTCTTACATTAAAATCTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC MANE Select	ENSP00000274813.3:p.Asp59HisfsTer8
ENST00000274813.3:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC	ENSP00000274813.3:p.Asp59HisfsTer8
NM_000255.3:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC	NP_000246.2:p.Asp59HisfsTer8
XM_005249143.2:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC	XP_005249200.1:p.Asp59HisfsTer8
XM_005249143.3:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC	XP_005249200.1:p.Asp59HisfsTer8
NM_000255.4:c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC MANE Select	NP_000246.2:p.Asp59HisfsTer8