Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633623_66633624insTTCTTTTTTGTTT , CM000669.2:g.66633623_66633624insTTCTTTTTTGTTT	GRCh38
NC_000007.13:g.66098610_66098611insTTCTTTTTTGTTT , CM000669.1:g.66098610_66098611insTTCTTTTTTGTTT	GRCh37
NC_000007.12:g.65736045_65736046insTTCTTTTTTGTTT	NCBI36
NG_028110.1:g.9743_9744insTTCTTTTTTGTTT
NG_028110.2:g.9743_9744insTTCTTTTTTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000275532.4:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000449064.6:c.292+179_292+180insTTCTTTTTTGTTT
ENST00000503687.2:c.144+4415_144+4416insTTCTTTTTTGTTT	ENSP00000421074.1:n.144+4415_144+4416insTTCTTTTTTGTTT
ENST00000638524.1:c.139+4415_139+4416insTTCTTTTTTGTTT
ENST00000638540.1:c.118+4415_118+4416insTTCTTTTTTGTTT
ENST00000639828.2:c.314+179_314+180insTTCTTTTTTGTTT MANE Select	ENSP00000492240.1:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000639879.1:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000492161.1:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000640234.1:c.184+179_184+180insTTCTTTTTTGTTT
ENST00000640385.1:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000491193.1:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000640851.1:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000492577.1:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000275532.7:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000275532.3:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000443322.1:c.314+179_314+180insTTCTTTTTTGTTT	ENSP00000411624.1:n.314+179_314+180insTTCTTTTTTGTTT
ENST00000449064.5:c.144+4415_144+4416insTTCTTTTTTGTTT	ENSP00000388463.1:n.144+4415_144+4416insTTCTTTTTTGTTT
ENST00000503687.1:c.144+4415_144+4416insTTCTTTTTTGTTT	ENSP00000421074.1:n.144+4415_144+4416insTTCTTTTTTGTTT
NM_001167961.2:c.314+179_314+180insTTCTTTTTTGTTT	NP_001161433.1:n.314+179_314+180insTTCTTTTTTGTTT
NM_153033.4:c.314+179_314+180insTTCTTTTTTGTTT	NP_694578.1:n.314+179_314+180insTTCTTTTTTGTTT
NM_153033.5:c.314+179_314+180insTTCTTTTTTGTTT MANE Select	NP_694578.1:n.314+179_314+180insTTCTTTTTTGTTT