Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010893_58010899delinsTACCTGG , CM000677.2:g.58010893_58010899delinsTACCTGG	GRCh38
NC_000015.9:g.58303091_58303097delinsTACCTGG , CM000677.1:g.58303091_58303097delinsTACCTGG	GRCh37
NC_000015.8:g.56090383_56090389delinsTACCTGG	NCBI36
NG_012259.1:g.59810_59816delinsCCAGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.364-121_364-115delinsCCAGGTA MANE Select	ENSP00000249750.4:n.364-121_364-115delinsCCAGGTA
ENST00000249750.8:c.364-121_364-115delinsCCAGGTA	ENSP00000249750.4:n.364-121_364-115delinsCCAGGTA
ENST00000347587.7:c.364-121_364-115delinsCCAGGTA	ENSP00000309623.3:n.364-121_364-115delinsCCAGGTA
ENST00000430119.6:c.338-121_338-115delinsCCAGGTA	ENSP00000416754.2:n.338-121_338-115delinsCCAGGTA
ENST00000537372.5:c.301-121_301-115delinsCCAGGTA	ENSP00000438296.1:n.301-121_301-115delinsCCAGGTA
ENST00000558231.5:c.277-121_277-115delinsCCAGGTA	ENSP00000453600.1:n.277-121_277-115delinsCCAGGTA
ENST00000559266.5:n.318+2959_318+2965delinsCCAGGTA
ENST00000559517.5:c.76-121_76-115delinsCCAGGTA	ENSP00000453408.1:n.76-121_76-115delinsCCAGGTA
ENST00000561070.5:c.76-121_76-115delinsCCAGGTA	ENSP00000452850.1:n.76-121_76-115delinsCCAGGTA
NM_001206897.1:c.301-121_301-115delinsCCAGGTA	NP_001193826.1:n.301-121_301-115delinsCCAGGTA
NM_003888.3:c.364-121_364-115delinsCCAGGTA	NP_003879.2:n.364-121_364-115delinsCCAGGTA
NM_170696.2:c.364-121_364-115delinsCCAGGTA	NP_733797.1:n.364-121_364-115delinsCCAGGTA
NM_170697.2:c.76-121_76-115delinsCCAGGTA	NP_733798.1:n.76-121_76-115delinsCCAGGTA
XM_024450095.1:c.364-121_364-115delinsCCAGGTA	XP_024305863.1:n.364-121_364-115delinsCCAGGTA
NM_003888.4:c.364-121_364-115delinsCCAGGTA MANE Select	NP_003879.2:n.364-121_364-115delinsCCAGGTA
NM_170696.3:c.364-121_364-115delinsCCAGGTA	NP_733797.1:n.364-121_364-115delinsCCAGGTA
NM_170697.3:c.76-121_76-115delinsCCAGGTA	NP_733798.1:n.76-121_76-115delinsCCAGGTA
NM_001206897.2:c.301-121_301-115delinsCCAGGTA	NP_001193826.1:n.301-121_301-115delinsCCAGGTA