Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530876_87530877insGAAAGAAAGAAAAGAAA , CM000669.2:g.87530876_87530877insGAAAGAAAGAAAAGAAA	GRCh38
NC_000007.13:g.87160192_87160193insGAAAGAAAGAAAAGAAA , CM000669.1:g.87160192_87160193insGAAAGAAAGAAAAGAAA	GRCh37
NC_000007.12:g.86998128_86998129insGAAAGAAAGAAAAGAAA	NCBI36
NG_011513.1:g.187379_187380insTCTTTCTTTCTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	ENSP00000265724.3:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
ENST00000622132.5:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT MANE Select	ENSP00000478255.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
ENST00000265724.7:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	ENSP00000265724.3:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
ENST00000488737.6:n.327+424_327+425insTCTTTCTTTCTTTCTTT
ENST00000496821.5:n.313+424_313+425insTCTTTCTTTCTTTCTTT
ENST00000543898.5:c.2493+424_2493+425insTCTTTCTTTCTTTCTTT	ENSP00000444095.1:n.2493+424_2493+425insTCTTTCTTTCTTTCTTT
ENST00000622132.4:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	ENSP00000478255.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_000927.4:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	NP_000918.2:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_001348944.1:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	NP_001335873.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_001348945.1:c.2895+424_2895+425insTCTTTCTTTCTTTCTTT	NP_001335874.1:n.2895+424_2895+425insTCTTTCTTTCTTTCTTT
NM_001348946.1:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	NP_001335875.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_001348946.2:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT MANE Select	NP_001335875.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_000927.5:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	NP_000918.2:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_001348944.2:c.2685+424_2685+425insTCTTTCTTTCTTTCTTT	NP_001335873.1:n.2685+424_2685+425insTCTTTCTTTCTTTCTTT
NM_001348945.2:c.2895+424_2895+425insTCTTTCTTTCTTTCTTT	NP_001335874.1:n.2895+424_2895+425insTCTTTCTTTCTTTCTTT