Canonical Allele Identifier: CA2521846397

Gene: AMER1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192332_64192333insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA , CM000685.2:g.64192332_64192333insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA	GRCh38
NC_000023.10:g.63412212_63412213insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA , CM000685.1:g.63412212_63412213insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA	GRCh37
NC_000023.9:g.63328937_63328938insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA	NCBI36
NG_021345.1:g.18412_18413insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA MANE Select	ENSP00000364003.4:p.Leu319TyrfsTer2
ENST00000330258.3:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA	ENSP00000329117.3:p.Leu319TyrfsTer2
ENST00000374869.7:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA	ENSP00000364003.3:p.Leu319TyrfsTer2
NM_152424.3:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA	NP_689637.3:p.Leu319TyrfsTer2
XM_011530858.1:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA	XP_011529160.1:p.Leu319TyrfsTer2
NM_152424.4:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA MANE Select	NP_689637.3:p.Leu319TyrfsTer2