Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102854780_102854787delinsCTAACTCA , CM000674.2:g.102854780_102854787delinsCTAACTCA	GRCh38
NC_000012.11:g.103248558_103248565delinsCTAACTCA , CM000674.1:g.103248558_103248565delinsCTAACTCA	GRCh37
NC_000012.10:g.101772688_101772695delinsCTAACTCA	NCBI36
NG_008690.1:g.67816_67823delinsTGAGTTAG
NG_008690.2:g.108624_108631delinsTGAGTTAG

HGVS	Amino-acid Change
NM_000277.3:c.706+349_706+356delinsTGAGTTAG MANE Select	NP_000268.1:n.706+349_706+356delinsTGAGTTAG
ENST00000553106.6:c.706+349_706+356delinsTGAGTTAG MANE Select	ENSP00000448059.1:n.706+349_706+356delinsTGAGTTAG
NM_000277.1:c.706+349_706+356delinsTGAGTTAG	NP_000268.1:n.706+349_706+356delinsTGAGTTAG
NM_000277.2:c.706+349_706+356delinsTGAGTTAG	NP_000268.1:n.706+349_706+356delinsTGAGTTAG
NM_001354304.1:c.706+349_706+356delinsTGAGTTAG	NP_001341233.1:n.706+349_706+356delinsTGAGTTAG
NM_001354304.2:c.706+349_706+356delinsTGAGTTAG	NP_001341233.1:n.706+349_706+356delinsTGAGTTAG
ENST00000307000.7:c.691+349_691+356delinsTGAGTTAG	ENSP00000303500.2:n.691+349_691+356delinsTGAGTTAG
ENST00000549111.5:n.1151_1158delinsTGAGTTAG
ENST00000553106.5:c.706+349_706+356delinsTGAGTTAG	ENSP00000448059.1:n.706+349_706+356delinsTGAGTTAG
XM_011538422.1:c.706+349_706+356delinsTGAGTTAG	XP_011536724.1:n.706+349_706+356delinsTGAGTTAG
XM_017019370.2:c.721_*5delinsTGAGTTAG	XP_016874859.1:n.[c.721_*5delinsTGAGTTAG;Ter241=]