Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120187_11120190delinsTGTTGGCTGAAAA , CM000681.2:g.11120187_11120190delinsTGTTGGCTGAAAA	GRCh38
NC_000019.9:g.11230863_11230866delinsTGTTGGCTGAAAA , CM000681.1:g.11230863_11230866delinsTGTTGGCTGAAAA	GRCh37
NC_000019.8:g.11091863_11091866delinsTGTTGGCTGAAAA	NCBI36
NG_009060.1:g.35807_35810delinsTGTTGGCTGAAAA , LRG_274:g.35807_35810delinsTGTTGGCTGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2199_2202delinsTGTTGGCTGAAAA	ENSP00000252444.6:p.Leu734ValfsTer3
ENST00000559340.2:c.10_13delinsTGTTGGCTGAAAA	ENSP00000453696.2:n.10_13delinsTGTTGGCTGAAAA
ENST00000560467.2:c.1821_1824delinsTGTTGGCTGAAAA	ENSP00000453513.2:p.Leu608ValfsTer3
ENST00000558518.6:c.1941_1944delinsTGTTGGCTGAAAA MANE Select	ENSP00000454071.1:p.Leu648ValfsTer3
ENST00000252444.9:c.2195_2198delinsTGTTGGCTGAAAA
ENST00000455727.6:c.1437_1440delinsTGTTGGCTGAAAA	ENSP00000397829.2:p.Leu480ValfsTer3
ENST00000535915.5:c.1818_1821delinsTGTTGGCTGAAAA	ENSP00000440520.1:p.Leu607ValfsTer3
ENST00000545707.5:c.1560_1563delinsTGTTGGCTGAAAA	ENSP00000437639.1:p.Leu521ValfsTer3
ENST00000557933.5:c.1941_1944delinsTGTTGGCTGAAAA	ENSP00000453557.1:p.Leu648ValfsTer3
ENST00000558013.5:c.1941_1944delinsTGTTGGCTGAAAA	ENSP00000453346.1:p.Leu648ValfsTer3
ENST00000558518.5:c.1941_1944delinsTGTTGGCTGAAAA	ENSP00000454071.1:p.Leu648ValfsTer3
ENST00000559340.1:c.522_525delinsTGTTGGCTGAAAA
NM_000527.4:c.1941_1944delinsTGTTGGCTGAAAA , LRG_274t1:c.1941_1944delinsTGTTGGCTGAAAA	NP_000518.1:p.Leu648ValfsTer3
NM_001195798.1:c.1941_1944delinsTGTTGGCTGAAAA	NP_001182727.1:p.Leu648ValfsTer3
NM_001195799.1:c.1818_1821delinsTGTTGGCTGAAAA	NP_001182728.1:p.Leu607ValfsTer3
NM_001195800.1:c.1437_1440delinsTGTTGGCTGAAAA	NP_001182729.1:p.Leu480ValfsTer3
NM_001195803.1:c.1560_1563delinsTGTTGGCTGAAAA	NP_001182732.1:p.Leu521ValfsTer3
XM_011528010.1:c.1941_1944delinsTGTTGGCTGAAAA	XP_011526312.1:p.Leu648ValfsTer3
XM_011528011.1:c.1560_1563delinsTGTTGGCTGAAAA	XP_011526313.1:p.Leu521ValfsTer3
XR_244074.2:n.1951_1954delinsTGTTGGCTGAAAA
XM_011528010.2:c.1941_1944delinsTGTTGGCTGAAAA	XP_011526312.1:p.Leu648ValfsTer3
XR_001753685.2:n.2058_2061delinsTGTTGGCTGAAAA
XR_001753686.2:n.1918_1921delinsTGTTGGCTGAAAA
NM_000527.5:c.1941_1944delinsTGTTGGCTGAAAA MANE Select	NP_000518.1:p.Leu648ValfsTer3
NM_001195798.2:c.1941_1944delinsTGTTGGCTGAAAA	NP_001182727.1:p.Leu648ValfsTer3
NM_001195799.2:c.1818_1821delinsTGTTGGCTGAAAA	NP_001182728.1:p.Leu607ValfsTer3
NM_001195800.2:c.1437_1440delinsTGTTGGCTGAAAA	NP_001182729.1:p.Leu480ValfsTer3
NM_001195803.2:c.1560_1563delinsTGTTGGCTGAAAA	NP_001182732.1:p.Leu521ValfsTer3