Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300480_6300502delinsTGGGGAGGGCCACCTGGAGAAGG , CM000666.2:g.6300480_6300502delinsTGGGGAGGGCCACCTGGAGAAGG	GRCh38
NC_000004.11:g.6302207_6302229delinsTGGGGAGGGCCACCTGGAGAAGG , CM000666.1:g.6302207_6302229delinsTGGGGAGGGCCACCTGGAGAAGG	GRCh37
NC_000004.10:g.6353108_6353130delinsTGGGGAGGGCCACCTGGAGAAGG	NCBI36
NG_011700.1:g.35631_35653delinsTGGGGAGGGCCACCTGGAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-177_898-155delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000507852.1:n.898-177_898-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000683395.1:c.839-177_839-155delinsTGGGGAGGGCCACCTGGAGAAGG
ENST00000684087.1:c.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000506978.1:n.862-177_862-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000506362.2:c.613-177_613-155delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000424103.2:n.613-177_613-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000673642.1:c.661-317_661-295delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000501242.1:n.661-317_661-295delinsTGGGGAGGGCCACCTGGAGA...
ENST00000673991.1:c.898-177_898-155delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000501033.1:n.898-177_898-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000226760.5:c.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG MANE Select	ENSP00000226760.1:n.862-177_862-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000503569.5:c.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG	ENSP00000423337.1:n.862-177_862-155delinsTGGGGAGGGCCACCTGGAGA...
ENST00000506362.1:c.495-177_495-155delinsTGGGGAGGGCCACCTGGAGAAGG
ENST00000507765.1:n.1047-177_1047-155delinsTGGGGAGGGCCACCTGGAGAAGG
ENST00000513395.1:n.420-177_420-155delinsTGGGGAGGGCCACCTGGAGAAGG
NM_001145853.1:c.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG	NP_001139325.1:n.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG...
NM_006005.3:c.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG MANE Select	NP_005996.2:n.862-177_862-155delinsTGGGGAGGGCCACCTGGAGAAGG
XM_017008586.1:c.871-177_871-155delinsTGGGGAGGGCCACCTGGAGAAGG	XP_016864075.1:n.871-177_871-155delinsTGGGGAGGGCCACCTGGAGAAGG...