Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174773delinsATTCCTTCTC , CM000669.2:g.55174773delinsATTCCTTCTC	GRCh38
NC_000007.13:g.55242466delinsATTCCTTCTC , CM000669.1:g.55242466delinsATTCCTTCTC	GRCh37
NC_000007.12:g.55209960delinsATTCCTTCTC	NCBI36
NG_007726.3:g.160742delinsATTCCTTCTC , LRG_304:g.160742delinsATTCCTTCTC

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.2236delinsATTCCTTCTC MANE Select	NP_005219.2:p.Glu746delinsIleProSerGln
ENST00000275493.7:c.2236delinsATTCCTTCTC MANE Select	ENSP00000275493.2:p.Glu746delinsIleProSerGln
NM_001346897.1:c.2101delinsATTCCTTCTC	NP_001333826.1:p.Glu701delinsIleProSerGln
NM_001346897.2:c.2101delinsATTCCTTCTC	NP_001333826.1:p.Glu701delinsIleProSerGln
NM_001346898.1:c.2236delinsATTCCTTCTC	NP_001333827.1:p.Glu746delinsIleProSerGln
NM_001346898.2:c.2236delinsATTCCTTCTC	NP_001333827.1:p.Glu746delinsIleProSerGln
NM_001346899.1:c.2101delinsATTCCTTCTC	NP_001333828.1:p.Glu701delinsIleProSerGln
NM_001346899.2:c.2101delinsATTCCTTCTC	NP_001333828.1:p.Glu701delinsIleProSerGln
NM_001346900.1:c.2077delinsATTCCTTCTC	NP_001333829.1:p.Glu693delinsIleProSerGln
NM_001346900.2:c.2077delinsATTCCTTCTC	NP_001333829.1:p.Glu693delinsIleProSerGln
NM_001346941.1:c.1435delinsATTCCTTCTC	NP_001333870.1:p.Glu479delinsIleProSerGln
NM_001346941.2:c.1435delinsATTCCTTCTC	NP_001333870.1:p.Glu479delinsIleProSerGln
NM_005228.3:c.2236delinsATTCCTTCTC , LRG_304t1:c.2236delinsATTCCTTCTC	NP_005219.2:p.Glu746delinsIleProSerGln
NM_005228.4:c.2236delinsATTCCTTCTC	NP_005219.2:p.Glu746delinsIleProSerGln
ENST00000275493.6:c.2236delinsATTCCTTCTC	ENSP00000275493.2:p.Glu746delinsIleProSerGln
ENST00000442591.5:c.*28+1845delinsATTCCTTCTC	ENSP00000410031.1:n.*28+1845delinsATTCCTTCTC
ENST00000450046.2:c.2077delinsATTCCTTCTC	ENSP00000413354.2:p.Glu693delinsIleProSerGln
ENST00000454757.6:c.2101delinsATTCCTTCTC	ENSP00000395243.3:p.Glu701delinsIleProSerGln
ENST00000455089.5:c.2101delinsATTCCTTCTC	ENSP00000415559.1:p.Glu701delinsIleProSerGln
ENST00000700145.1:c.585delinsATTCCTTCTC