Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515623_66515626delinsCCTT , CM000673.2:g.66515623_66515626delinsCCTT	GRCh38
NC_000011.9:g.66283094_66283097delinsCCTT , CM000673.1:g.66283094_66283097delinsCCTT	GRCh37
NC_000011.8:g.66039670_66039673delinsCCTT	NCBI36
NG_009093.1:g.9976_9979delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+37_479+40delinsCCTT MANE Select	ENSP00000317469.7:n.479+37_479+40delinsCCTT
ENST00000318312.11:c.479+37_479+40delinsCCTT	ENSP00000317469.7:n.479+37_479+40delinsCCTT
ENST00000393994.4:c.479+37_479+40delinsCCTT	ENSP00000377563.2:n.479+37_479+40delinsCCTT
ENST00000419755.3:c.590+37_590+40delinsCCTT	ENSP00000398526.3:n.590+37_590+40delinsCCTT
ENST00000455748.6:c.432+945_432+948delinsCCTT	ENSP00000405764.2:n.432+945_432+948delinsCCTT
ENST00000524458.5:c.140-70_140-67delinsCCTT	ENSP00000436195.1:n.140-70_140-67delinsCCTT
ENST00000524907.5:n.506_509delinsCCTT
ENST00000525809.5:c.206+37_206+40delinsCCTT	ENSP00000431187.1:n.206+37_206+40delinsCCTT
ENST00000526035.5:c.186+37_186+40delinsCCTT	ENSP00000434197.1:n.186+37_186+40delinsCCTT
ENST00000526760.5:c.186+37_186+40delinsCCTT	ENSP00000432140.1:n.186+37_186+40delinsCCTT
ENST00000527251.5:c.186+37_186+40delinsCCTT	ENSP00000434360.1:n.186+37_186+40delinsCCTT
ENST00000529766.5:n.486+37_486+40delinsCCTT
ENST00000529953.5:n.131+37_131+40delinsCCTT
ENST00000529955.5:n.451-70_451-67delinsCCTT
ENST00000532908.5:c.140-70_140-67delinsCCTT	ENSP00000431866.1:n.140-70_140-67delinsCCTT
ENST00000533430.5:n.257+37_257+40delinsCCTT
ENST00000533557.5:c.140-70_140-67delinsCCTT	ENSP00000434619.1:n.140-70_140-67delinsCCTT
ENST00000533644.5:c.433-70_433-67delinsCCTT	ENSP00000436073.1:n.433-70_433-67delinsCCTT
ENST00000534730.5:n.491+37_491+40delinsCCTT
ENST00000630659.2:c.186+37_186+40delinsCCTT	ENSP00000486455.1:n.186+37_186+40delinsCCTT
NM_024649.4:c.479+37_479+40delinsCCTT	NP_078925.3:n.479+37_479+40delinsCCTT
NM_024649.5:c.479+37_479+40delinsCCTT MANE Select	NP_078925.3:n.479+37_479+40delinsCCTT