Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102855288_102855289insGAGACACC , CM000674.2:g.102855288_102855289insGAGACACC	GRCh38
NC_000012.11:g.103249066_103249067insGAGACACC , CM000674.1:g.103249066_103249067insGAGACACC	GRCh37
NC_000012.10:g.101773196_101773197insGAGACACC	NCBI36
NG_008690.1:g.67314_67315insGGTGTCTC
NG_008690.2:g.108122_108123insGGTGTCTC

HGVS	Amino-acid Change
ENST00000553106.6:c.553_554insGGTGTCTC MANE Select	ENSP00000448059.1:p.Lys185ArgfsTer13
ENST00000307000.7:c.538_539insGGTGTCTC	ENSP00000303500.2:p.Lys180ArgfsTer13
ENST00000549111.5:n.649_650insGGTGTCTC
ENST00000551988.5:n.574_575insGGTGTCTC
ENST00000553106.5:c.553_554insGGTGTCTC	ENSP00000448059.1:p.Lys185ArgfsTer13
NM_000277.1:c.553_554insGGTGTCTC	NP_000268.1:p.Lys185ArgfsTer13
XM_011538422.1:c.553_554insGGTGTCTC	XP_011536724.1:p.Lys185ArgfsTer13
NM_000277.2:c.553_554insGGTGTCTC	NP_000268.1:p.Lys185ArgfsTer13
NM_001354304.1:c.553_554insGGTGTCTC	NP_001341233.1:p.Lys185ArgfsTer13
XM_017019370.2:c.553_554insGGTGTCTC	XP_016874859.1:p.Lys185ArgfsTer13
NM_000277.3:c.553_554insGGTGTCTC MANE Select	NP_000268.1:p.Lys185ArgfsTer13
NM_001354304.2:c.553_554insGGTGTCTC	NP_001341233.1:p.Lys185ArgfsTer13