Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116899_11116904delinsTCACTC , CM000681.2:g.11116899_11116904delinsTCACTC	GRCh38
NC_000019.9:g.11227575_11227580delinsTCACTC , CM000681.1:g.11227575_11227580delinsTCACTC	GRCh37
NC_000019.8:g.11088575_11088580delinsTCACTC	NCBI36
NG_009060.1:g.32519_32524delinsTCACTC , LRG_274:g.32519_32524delinsTCACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2004_2009delinsTCACTC	ENSP00000252444.6:p.Leu668=
ENST00000559340.2:c.1705+687_1705+692delinsTCACTC	ENSP00000453696.2:n.1705+687_1705+692delinsTCACTC
ENST00000560467.2:c.1626_1631delinsTCACTC	ENSP00000453513.2:p.Leu542=
ENST00000558518.6:c.1746_1751delinsTCACTC MANE Select	ENSP00000454071.1:p.Leu582=
ENST00000252444.9:c.2000_2005delinsTCACTC
ENST00000455727.6:c.1242_1247delinsTCACTC	ENSP00000397829.2:p.Leu414=
ENST00000535915.5:c.1623_1628delinsTCACTC	ENSP00000440520.1:p.Leu541=
ENST00000545707.5:c.1365_1370delinsTCACTC	ENSP00000437639.1:p.Leu455=
ENST00000557933.5:c.1746_1751delinsTCACTC	ENSP00000453557.1:p.Leu582=
ENST00000558013.5:c.1746_1751delinsTCACTC	ENSP00000453346.1:p.Leu582=
ENST00000558518.5:c.1746_1751delinsTCACTC	ENSP00000454071.1:p.Leu582=
ENST00000559340.1:c.426+687_426+692delinsTCACTC
NM_000527.4:c.1746_1751delinsTCACTC , LRG_274t1:c.1746_1751delinsTCACTC	NP_000518.1:p.Leu582=
NM_001195798.1:c.1746_1751delinsTCACTC	NP_001182727.1:p.Leu582=
NM_001195799.1:c.1623_1628delinsTCACTC	NP_001182728.1:p.Leu541=
NM_001195800.1:c.1242_1247delinsTCACTC	NP_001182729.1:p.Leu414=
NM_001195803.1:c.1365_1370delinsTCACTC	NP_001182732.1:p.Leu455=
XM_011528010.1:c.1746_1751delinsTCACTC	XP_011526312.1:p.Leu582=
XM_011528011.1:c.1365_1370delinsTCACTC	XP_011526313.1:p.Leu455=
XR_244074.2:n.1855+687_1855+692delinsTCACTC
XM_011528010.2:c.1746_1751delinsTCACTC	XP_011526312.1:p.Leu582=
XR_001753685.2:n.1863_1868delinsTCACTC
XR_001753686.2:n.1822+687_1822+692delinsTCACTC
NM_000527.5:c.1746_1751delinsTCACTC MANE Select	NP_000518.1:p.Leu582=
NM_001195798.2:c.1746_1751delinsTCACTC	NP_001182727.1:p.Leu582=
NM_001195799.2:c.1623_1628delinsTCACTC	NP_001182728.1:p.Leu541=
NM_001195800.2:c.1242_1247delinsTCACTC	NP_001182729.1:p.Leu414=
NM_001195803.2:c.1365_1370delinsTCACTC	NP_001182732.1:p.Leu455=