Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117134_11117139delinsCTTTCT , CM000681.2:g.11117134_11117139delinsCTTTCT	GRCh38
NC_000019.9:g.11227810_11227815delinsCTTTCT , CM000681.1:g.11227810_11227815delinsCTTTCT	GRCh37
NC_000019.8:g.11088810_11088815delinsCTTTCT	NCBI36
NG_009060.1:g.32754_32759delinsCTTTCT , LRG_274:g.32754_32759delinsCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+136_2103+141delinsCTTTCT	ENSP00000252444.6:n.2103+136_2103+141delinsCTTTCT
ENST00000559340.2:c.1705+922_1705+927delinsCTTTCT	ENSP00000453696.2:n.1705+922_1705+927delinsCTTTCT
ENST00000560467.2:c.1725+136_1725+141delinsCTTTCT	ENSP00000453513.2:n.1725+136_1725+141delinsCTTTCT
ENST00000558518.6:c.1845+136_1845+141delinsCTTTCT MANE Select	ENSP00000454071.1:n.1845+136_1845+141delinsCTTTCT
ENST00000252444.9:c.2099+136_2099+141delinsCTTTCT
ENST00000455727.6:c.1341+136_1341+141delinsCTTTCT	ENSP00000397829.2:n.1341+136_1341+141delinsCTTTCT
ENST00000535915.5:c.1722+136_1722+141delinsCTTTCT	ENSP00000440520.1:n.1722+136_1722+141delinsCTTTCT
ENST00000545707.5:c.1464+136_1464+141delinsCTTTCT	ENSP00000437639.1:n.1464+136_1464+141delinsCTTTCT
ENST00000557933.5:c.1845+136_1845+141delinsCTTTCT	ENSP00000453557.1:n.1845+136_1845+141delinsCTTTCT
ENST00000558013.5:c.1845+136_1845+141delinsCTTTCT	ENSP00000453346.1:n.1845+136_1845+141delinsCTTTCT
ENST00000558518.5:c.1845+136_1845+141delinsCTTTCT	ENSP00000454071.1:n.1845+136_1845+141delinsCTTTCT
ENST00000559340.1:c.426+922_426+927delinsCTTTCT
NM_000527.4:c.1845+136_1845+141delinsCTTTCT , LRG_274t1:c.1845+136_1845+141delinsCTTTCT	NP_000518.1:n.1845+136_1845+141delinsCTTTCT
NM_001195798.1:c.1845+136_1845+141delinsCTTTCT	NP_001182727.1:n.1845+136_1845+141delinsCTTTCT
NM_001195799.1:c.1722+136_1722+141delinsCTTTCT	NP_001182728.1:n.1722+136_1722+141delinsCTTTCT
NM_001195800.1:c.1341+136_1341+141delinsCTTTCT	NP_001182729.1:n.1341+136_1341+141delinsCTTTCT
NM_001195803.1:c.1464+136_1464+141delinsCTTTCT	NP_001182732.1:n.1464+136_1464+141delinsCTTTCT
XM_011528010.1:c.1845+136_1845+141delinsCTTTCT	XP_011526312.1:n.1845+136_1845+141delinsCTTTCT
XM_011528011.1:c.1464+136_1464+141delinsCTTTCT	XP_011526313.1:n.1464+136_1464+141delinsCTTTCT
XR_244074.2:n.1855+922_1855+927delinsCTTTCT
XM_011528010.2:c.1845+136_1845+141delinsCTTTCT	XP_011526312.1:n.1845+136_1845+141delinsCTTTCT
XR_001753685.2:n.1962+136_1962+141delinsCTTTCT
XR_001753686.2:n.1822+922_1822+927delinsCTTTCT
NM_000527.5:c.1845+136_1845+141delinsCTTTCT MANE Select	NP_000518.1:n.1845+136_1845+141delinsCTTTCT
NM_001195798.2:c.1845+136_1845+141delinsCTTTCT	NP_001182727.1:n.1845+136_1845+141delinsCTTTCT
NM_001195799.2:c.1722+136_1722+141delinsCTTTCT	NP_001182728.1:n.1722+136_1722+141delinsCTTTCT
NM_001195800.2:c.1341+136_1341+141delinsCTTTCT	NP_001182729.1:n.1341+136_1341+141delinsCTTTCT
NM_001195803.2:c.1464+136_1464+141delinsCTTTCT	NP_001182732.1:n.1464+136_1464+141delinsCTTTCT