Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314729_52314730insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52314729_52314730insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600996_50600997insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18528_18529insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543:g.18528_18529insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.9:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.8:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000419526.6:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000550683.5:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005269235.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_011539008.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_024449279.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.3:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...

HGVS	Amino-acid Change
ENST00000551576.6:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.9:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.8:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000419526.6:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000550683.5:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005269235.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_011539008.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_024449279.1:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.3:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.2:c.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.52_53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...