Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105391_11105392insAACAGCTCCACCTGCATCC , CM000681.2:g.11105391_11105392insAACAGCTCCACCTGCATCC	GRCh38
NC_000019.9:g.11216067_11216068insAACAGCTCCACCTGCATCC , CM000681.1:g.11216067_11216068insAACAGCTCCACCTGCATCC	GRCh37
NC_000019.8:g.11077067_11077068insAACAGCTCCACCTGCATCC	NCBI36
NG_009060.1:g.21011_21012insAACAGCTCCACCTGCATCC , LRG_274:g.21011_21012insAACAGCTCCACCTGCATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.743_744insAACAGCTCCACCTGCATCC	ENSP00000252444.6:p.Gln249ThrfsTer23
ENST00000559340.2:c.485_486insAACAGCTCCACCTGCATCC	ENSP00000453696.2:p.Gln163ThrfsTer23
ENST00000560467.2:c.485_486insAACAGCTCCACCTGCATCC	ENSP00000453513.2:p.Gln163ThrfsTer23
ENST00000558518.6:c.485_486insAACAGCTCCACCTGCATCC MANE Select	ENSP00000454071.1:p.Gln163ThrfsTer23
ENST00000252444.9:c.739_740insAACAGCTCCACCTGCATCC
ENST00000455727.6:c.314-2001_314-2000insAACAGCTCCACCTGCATCC	ENSP00000397829.2:n.314-2001_314-2000insAACAGCTCCACCTGCATCC
ENST00000535915.5:c.362_363insAACAGCTCCACCTGCATCC	ENSP00000440520.1:p.Gln122ThrfsTer23
ENST00000545707.5:c.314-1174_314-1173insAACAGCTCCACCTGCATCC	ENSP00000437639.1:n.314-1174_314-1173insAACAGCTCCACCTGCATCC
ENST00000557933.5:c.485_486insAACAGCTCCACCTGCATCC	ENSP00000453557.1:p.Gln163ThrfsTer23
ENST00000558013.5:c.485_486insAACAGCTCCACCTGCATCC	ENSP00000453346.1:p.Gln163ThrfsTer23
ENST00000558518.5:c.485_486insAACAGCTCCACCTGCATCC	ENSP00000454071.1:p.Gln163ThrfsTer23
ENST00000560467.1:c.85_86insAACAGCTCCACCTGCATCC
NM_000527.4:c.485_486insAACAGCTCCACCTGCATCC , LRG_274t1:c.485_486insAACAGCTCCACCTGCATCC	NP_000518.1:p.Gln163ThrfsTer23
NM_001195798.1:c.485_486insAACAGCTCCACCTGCATCC	NP_001182727.1:p.Gln163ThrfsTer23
NM_001195799.1:c.362_363insAACAGCTCCACCTGCATCC	NP_001182728.1:p.Gln122ThrfsTer23
NM_001195800.1:c.314-2001_314-2000insAACAGCTCCACCTGCATCC	NP_001182729.1:n.314-2001_314-2000insAACAGCTCCACCTGCATCC
NM_001195803.1:c.314-1174_314-1173insAACAGCTCCACCTGCATCC	NP_001182732.1:n.314-1174_314-1173insAACAGCTCCACCTGCATCC
XM_011528010.1:c.485_486insAACAGCTCCACCTGCATCC	XP_011526312.1:p.Gln163ThrfsTer23
XM_011528011.1:c.314-1174_314-1173insAACAGCTCCACCTGCATCC	XP_011526313.1:n.314-1174_314-1173insAACAGCTCCACCTGCATCC
XR_244074.2:n.635_636insAACAGCTCCACCTGCATCC
XM_011528010.2:c.485_486insAACAGCTCCACCTGCATCC	XP_011526312.1:p.Gln163ThrfsTer23
XR_001753685.2:n.602_603insAACAGCTCCACCTGCATCC
XR_001753686.2:n.602_603insAACAGCTCCACCTGCATCC
NM_000527.5:c.485_486insAACAGCTCCACCTGCATCC MANE Select	NP_000518.1:p.Gln163ThrfsTer23
NM_001195798.2:c.485_486insAACAGCTCCACCTGCATCC	NP_001182727.1:p.Gln163ThrfsTer23
NM_001195799.2:c.362_363insAACAGCTCCACCTGCATCC	NP_001182728.1:p.Gln122ThrfsTer23
NM_001195800.2:c.314-2001_314-2000insAACAGCTCCACCTGCATCC	NP_001182729.1:n.314-2001_314-2000insAACAGCTCCACCTGCATCC
NM_001195803.2:c.314-1174_314-1173insAACAGCTCCACCTGCATCC	NP_001182732.1:n.314-1174_314-1173insAACAGCTCCACCTGCATCC