Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704041_6704042insCATCAGCCTG , CM000679.2:g.6704041_6704042insCATCAGCCTG	GRCh38
NC_000017.10:g.6607360_6607361insCATCAGCCTG , CM000679.1:g.6607360_6607361insCATCAGCCTG	GRCh37
NC_000017.9:g.6548084_6548085insCATCAGCCTG	NCBI36
NG_034220.1:g.14382_14383insGGCTGATGCA , LRG_1020:g.14382_14383insGGCTGATGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.385_386insGGCTGATGCA MANE Select	ENSP00000406220.2:p.Met129ArgfsTer16
ENST00000293800.10:c.369-35_369-34insGGCTGATGCA	ENSP00000293800.6:n.369-35_369-34insGGCTGATGCA
ENST00000381074.8:c.256_257insGGCTGATGCA	ENSP00000370464.4:p.Met86ArgfsTer16
ENST00000433363.6:c.385_386insGGCTGATGCA	ENSP00000406220.2:p.Met129ArgfsTer16
ENST00000572094.1:c.135_136insGGCTGATGCA	ENSP00000461495.1:n.135_136insGGCTGATGCA
ENST00000572352.5:c.274_275insGGCTGATGCA	ENSP00000461622.1:p.Met92ArgfsTer16
ENST00000573648.5:c.385_386insGGCTGATGCA	ENSP00000459372.1:p.Met129ArgfsTer16
ENST00000574824.5:n.1518_1519insGGCTGATGCA
ENST00000575230.1:c.231_232insGGCTGATGCA	ENSP00000460903.1:n.231_232insGGCTGATGCA
ENST00000576323.1:n.415_416insGGCTGATGCA
NM_001143838.2:c.385_386insGGCTGATGCA	NP_001137310.1:p.Met129ArgfsTer16
NM_001284509.1:c.369-35_369-34insGGCTGATGCA	NP_001271438.1:n.369-35_369-34insGGCTGATGCA
NM_001284510.1:c.256_257insGGCTGATGCA	NP_001271439.1:p.Met86ArgfsTer16
NM_177550.4:c.385_386insGGCTGATGCA , LRG_1020t1:c.385_386insGGCTGATGCA	NP_808218.1:p.Met129ArgfsTer16
XM_006721504.2:c.274_275insGGCTGATGCA	XP_006721567.1:p.Met92ArgfsTer16
XM_011523795.1:c.385_386insGGCTGATGCA	XP_011522097.1:p.Met129ArgfsTer16
XM_011523795.3:c.385_386insGGCTGATGCA	XP_011522097.1:p.Met129ArgfsTer16
NM_001143838.3:c.385_386insGGCTGATGCA	NP_001137310.1:p.Met129ArgfsTer16
NM_001284509.2:c.369-35_369-34insGGCTGATGCA	NP_001271438.1:n.369-35_369-34insGGCTGATGCA
NM_001284510.2:c.256_257insGGCTGATGCA	NP_001271439.1:p.Met86ArgfsTer16
NM_177550.5:c.385_386insGGCTGATGCA MANE Select	NP_808218.1:p.Met129ArgfsTer16