Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810321_68810322insAAGGGATATA , CM000678.2:g.68810321_68810322insAAGGGATATA	GRCh38
NC_000016.9:g.68844224_68844225insAAGGGATATA , CM000678.1:g.68844224_68844225insAAGGGATATA	GRCh37
NC_000016.8:g.67401725_67401726insAAGGGATATA	NCBI36
NG_008021.1:g.78030_78031insAAGGGATATA , LRG_301:g.78030_78031insAAGGGATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.812_813insAAGGGATATA MANE Select	ENSP00000261769.4:p.Met272ArgfsTer24
ENST00000261769.9:c.812_813insAAGGGATATA	ENSP00000261769.4:p.Met272ArgfsTer24
ENST00000422392.6:c.812_813insAAGGGATATA	ENSP00000414946.2:p.Met272ArgfsTer24
ENST00000561751.1:c.455-1363_455-1362insAAGGGATATA
ENST00000562836.5:n.883_884insAAGGGATATA
ENST00000566510.5:c.656_657insAAGGGATATA	ENSP00000458139.1:p.Met220ArgfsTer24
ENST00000566612.5:c.812_813insAAGGGATATA	ENSP00000454782.1:p.Met272ArgfsTer24
ENST00000611625.4:c.812_813insAAGGGATATA	ENSP00000481063.1:p.Met272ArgfsTer24
ENST00000612417.4:c.812_813insAAGGGATATA	ENSP00000478360.1:p.Met272ArgfsTer24
ENST00000621016.4:c.812_813insAAGGGATATA	ENSP00000480664.1:p.Met272ArgfsTer24
NM_004360.3:c.812_813insAAGGGATATA , LRG_301t1:c.812_813insAAGGGATATA	NP_004351.1:p.Met272ArgfsTer24
XM_011523488.1:c.77_78insAAGGGATATA	XP_011521790.1:p.Met27ArgfsTer24
XM_011523489.1:c.77_78insAAGGGATATA	XP_011521791.1:p.Met27ArgfsTer24
NM_001317184.1:c.812_813insAAGGGATATA	NP_001304113.1:p.Met272ArgfsTer24
NM_001317185.1:c.-804_-803insAAGGGATATA	NP_001304114.1:n.-804_-803insAAGGGATATA
NM_001317186.1:c.-1008_-1007insAAGGGATATA	NP_001304115.1:n.-1008_-1007insAAGGGATATA
NM_004360.4:c.812_813insAAGGGATATA	NP_004351.1:p.Met272ArgfsTer24
NM_004360.5:c.812_813insAAGGGATATA MANE Select	NP_004351.1:p.Met272ArgfsTer24
NM_001317184.2:c.812_813insAAGGGATATA	NP_001304113.1:p.Met272ArgfsTer24
NM_001317185.2:c.-804_-803insAAGGGATATA	NP_001304114.1:n.-804_-803insAAGGGATATA
NM_001317186.2:c.-1008_-1007insAAGGGATATA	NP_001304115.1:n.-1008_-1007insAAGGGATATA