Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142099_193142117delinsGAGAGAGAGAGAGAGAGAG , CM000663.2:g.193142099_193142117delinsGAGAGAGAGAGAGAGAGAG	GRCh38
NC_000001.10:g.193111229_193111247delinsGAGAGAGAGAGAGAGAGAG , CM000663.1:g.193111229_193111247delinsGAGAGAGAGAGAGAGAGAG	GRCh37
NC_000001.9:g.191377852_191377870delinsGAGAGAGAGAGAGAGAGAG	NCBI36
NG_012691.1:g.25142_25160delinsGAGAGAGAGAGAGAGAGAG , LRG_507:g.25142_25160delinsGAGAGAGAGAGAGAGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG MANE Select	ENSP00000356405.4:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000635846.1:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000490035.1:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000643006.1:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000496633.1:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000643784.1:c.205+33_205+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000494944.1:n.205+33_205+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000647662.1:n.630+33_630+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000648071.1:c.705+33_705+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000497513.1:n.705+33_705+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000649606.1:n.742+33_742+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000649895.1:n.947+33_947+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000650197.1:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000496929.1:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
ENST00000367435.3:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	ENSP00000356405.3:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
NM_024529.4:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG , LRG_507t1:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	NP_078805.3:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
XM_006711537.2:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	XP_006711600.1:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
XM_006711537.4:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG	XP_006711600.1:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG
NM_024529.5:c.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG MANE Select	NP_078805.3:n.729+33_729+51delinsGAGAGAGAGAGAGAGAGAG