Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075225_65075230delinsTCCATG , CM000676.2:g.65075225_65075230delinsTCCATG	GRCh38
NC_000014.8:g.65541943_65541948delinsTCCATG , CM000676.1:g.65541943_65541948delinsTCCATG	GRCh37
NC_000014.7:g.64611696_64611701delinsTCCATG	NCBI36
NG_029830.1:g.32280_32285delinsCATGGA , LRG_530:g.32280_32285delinsCATGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.2182_2187delinsCATGGA	ENSP00000452378.1:n.2182_2187delinsCATGGA
ENST00000358664.9:c.1246_1251delinsCATGGA MANE Select	ENSP00000351490.4:n.1246_1251delinsCATGGA
ENST00000651648.1:c.145-4861_145-4856delinsCATGGA	ENSP00000498863.1:n.145-4861_145-4856delinsCATGGA
ENST00000284165.10:c.2573_2578delinsCATGGA	ENSP00000284165.6:n.2573_2578delinsCATGGA
ENST00000341653.6:c.171+18478_171+18483delinsCATGGA	ENSP00000342482.2:n.171+18478_171+18483delinsCATGGA
ENST00000358402.8:c.1246_1251delinsCATGGA	ENSP00000351175.4:n.1246_1251delinsCATGGA
ENST00000394606.6:c.1502_1507delinsCATGGA	ENSP00000378104.2:n.1502_1507delinsCATGGA
ENST00000555932.5:c.1221_1226delinsCATGGA	ENSP00000450763.1:n.1221_1226delinsCATGGA
ENST00000618858.4:c.1518_1523delinsCATGGA	ENSP00000480127.1:n.1518_1523delinsCATGGA
NM_001271069.1:c.144+18478_144+18483delinsCATGGA	NP_001257998.1:n.144+18478_144+18483delinsCATGGA
NM_002382.4:c.1246_1251delinsCATGGA	NP_002373.3:n.1246_1251delinsCATGGA
NM_145112.2:c.1246_1251delinsCATGGA	NP_660087.1:n.1246_1251delinsCATGGA
NM_145113.2:c.1518_1523delinsCATGGA	NP_660088.1:n.1518_1523delinsCATGGA
NM_197957.3:c.171+18478_171+18483delinsCATGGA	NP_932061.1:n.171+18478_171+18483delinsCATGGA
NR_073137.1:n.1853_1858delinsCATGGA
XR_429315.2:n.2016_2021delinsCATGGA
NM_001320415.1:c.1246_1251delinsCATGGA	NP_001307344.1:n.1246_1251delinsCATGGA
XM_017021312.2:c.1246_1251delinsCATGGA	XP_016876801.1:n.1246_1251delinsCATGGA
XM_017021313.1:c.1246_1251delinsCATGGA	XP_016876802.1:n.1246_1251delinsCATGGA
XR_001750326.2:n.2074_2079delinsCATGGA
XR_001750327.2:n.1993_1998delinsCATGGA
XR_002957553.1:n.2507_2512delinsCATGGA
XR_943450.3:n.2097_2102delinsCATGGA
XR_943451.3:n.2113_2118delinsCATGGA
XR_943452.3:n.2058_2063delinsCATGGA
NM_001320415.2:c.1246_1251delinsCATGGA	NP_001307344.1:n.1246_1251delinsCATGGA
NM_002382.5:c.1246_1251delinsCATGGA MANE Select	NP_002373.3:n.1246_1251delinsCATGGA
NM_145112.3:c.1246_1251delinsCATGGA	NP_660087.1:n.1246_1251delinsCATGGA
NM_145113.3:c.1518_1523delinsCATGGA	NP_660088.1:n.1518_1523delinsCATGGA
NM_001271069.2:c.144+18478_144+18483delinsCATGGA	NP_001257998.1:n.144+18478_144+18483delinsCATGGA
NM_197957.4:c.171+18478_171+18483delinsCATGGA	NP_932061.1:n.171+18478_171+18483delinsCATGGA

HGVS	Amino-acid Change
ENST00000556979.6:c.2182_2187delinsCATGGA	ENSP00000452378.1:n.2182_2187delinsCATGGA
ENST00000358664.9:c.1246_1251delinsCATGGA MANE Select	ENSP00000351490.4:n.1246_1251delinsCATGGA
ENST00000651648.1:c.145-4861_145-4856delinsCATGGA	ENSP00000498863.1:n.145-4861_145-4856delinsCATGGA
ENST00000284165.10:c.2573_2578delinsCATGGA	ENSP00000284165.6:n.2573_2578delinsCATGGA
ENST00000341653.6:c.171+18478_171+18483delinsCATGGA	ENSP00000342482.2:n.171+18478_171+18483delinsCATGGA
ENST00000358402.8:c.1246_1251delinsCATGGA	ENSP00000351175.4:n.1246_1251delinsCATGGA
ENST00000394606.6:c.1502_1507delinsCATGGA	ENSP00000378104.2:n.1502_1507delinsCATGGA
ENST00000555932.5:c.1221_1226delinsCATGGA	ENSP00000450763.1:n.1221_1226delinsCATGGA
ENST00000618858.4:c.1518_1523delinsCATGGA	ENSP00000480127.1:n.1518_1523delinsCATGGA
NM_001271069.1:c.144+18478_144+18483delinsCATGGA	NP_001257998.1:n.144+18478_144+18483delinsCATGGA
NM_002382.4:c.1246_1251delinsCATGGA	NP_002373.3:n.1246_1251delinsCATGGA
NM_145112.2:c.1246_1251delinsCATGGA	NP_660087.1:n.1246_1251delinsCATGGA
NM_145113.2:c.1518_1523delinsCATGGA	NP_660088.1:n.1518_1523delinsCATGGA
NM_197957.3:c.171+18478_171+18483delinsCATGGA	NP_932061.1:n.171+18478_171+18483delinsCATGGA
NR_073137.1:n.1853_1858delinsCATGGA
XR_429315.2:n.2016_2021delinsCATGGA
NM_001320415.1:c.1246_1251delinsCATGGA	NP_001307344.1:n.1246_1251delinsCATGGA
XM_017021312.2:c.1246_1251delinsCATGGA	XP_016876801.1:n.1246_1251delinsCATGGA
XM_017021313.1:c.1246_1251delinsCATGGA	XP_016876802.1:n.1246_1251delinsCATGGA
XR_001750326.2:n.2074_2079delinsCATGGA
XR_001750327.2:n.1993_1998delinsCATGGA
XR_002957553.1:n.2507_2512delinsCATGGA
XR_943450.3:n.2097_2102delinsCATGGA
XR_943451.3:n.2113_2118delinsCATGGA
XR_943452.3:n.2058_2063delinsCATGGA
NM_001320415.2:c.1246_1251delinsCATGGA	NP_001307344.1:n.1246_1251delinsCATGGA
NM_002382.5:c.1246_1251delinsCATGGA MANE Select	NP_002373.3:n.1246_1251delinsCATGGA
NM_145112.3:c.1246_1251delinsCATGGA	NP_660087.1:n.1246_1251delinsCATGGA
NM_145113.3:c.1518_1523delinsCATGGA	NP_660088.1:n.1518_1523delinsCATGGA
NM_001271069.2:c.144+18478_144+18483delinsCATGGA	NP_001257998.1:n.144+18478_144+18483delinsCATGGA
NM_197957.4:c.171+18478_171+18483delinsCATGGA	NP_932061.1:n.171+18478_171+18483delinsCATGGA