Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74180013_74180016delinsGGGA , CM000677.2:g.74180013_74180016delinsGGGA	GRCh38
NC_000015.9:g.74472354_74472357delinsGGGA , CM000677.1:g.74472354_74472357delinsGGGA	GRCh37
NC_000015.8:g.72259407_72259410delinsGGGA	NCBI36
NG_009207.1:g.34015_34018delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395105.9:c.64_67delinsTCCC MANE Select	ENSP00000378537.4:n.64_67delinsTCCC
ENST00000323940.9:c.64_67delinsTCCC	ENSP00000326085.5:n.64_67delinsTCCC
ENST00000395105.8:c.64_67delinsTCCC	ENSP00000378537.4:n.64_67delinsTCCC
ENST00000416286.7:c.64_67delinsTCCC	ENSP00000400403.3:n.64_67delinsTCCC
ENST00000423167.6:c.64_67delinsTCCC	ENSP00000413012.2:n.64_67delinsTCCC
ENST00000449139.6:c.64_67delinsTCCC	ENSP00000410221.2:n.64_67delinsTCCC
ENST00000535552.5:c.64_67delinsTCCC	ENSP00000440238.1:n.64_67delinsTCCC
ENST00000545137.5:n.1777_1780delinsTCCC
ENST00000563965.5:c.64_67delinsTCCC	ENSP00000456609.1:n.64_67delinsTCCC
ENST00000574278.5:c.64_67delinsTCCC	ENSP00000458827.1:n.64_67delinsTCCC
ENST00000574439.5:n.2340_2343delinsTCCC
ENST00000616000.4:c.64_67delinsTCCC	ENSP00000479112.1:n.64_67delinsTCCC
NM_001142617.1:c.64_67delinsTCCC	NP_001136089.1:n.64_67delinsTCCC
NM_001142618.1:c.64_67delinsTCCC	NP_001136090.1:n.64_67delinsTCCC
NM_001142619.1:c.64_67delinsTCCC	NP_001136091.1:n.64_67delinsTCCC
NM_001199040.1:c.64_67delinsTCCC	NP_001185969.1:n.64_67delinsTCCC
NM_001199041.1:c.64_67delinsTCCC	NP_001185970.1:n.64_67delinsTCCC
NM_001199042.1:c.64_67delinsTCCC	NP_001185971.1:n.64_67delinsTCCC
NM_022369.3:c.64_67delinsTCCC	NP_071764.3:n.64_67delinsTCCC
XM_011521883.1:c.64_67delinsTCCC	XP_011520185.1:n.64_67delinsTCCC
XM_011521884.1:c.64_67delinsTCCC	XP_011520186.1:n.64_67delinsTCCC
XM_017022478.1:c.64_67delinsTCCC	XP_016877967.1:n.64_67delinsTCCC
XM_017022479.1:c.64_67delinsTCCC	XP_016877968.1:n.64_67delinsTCCC
XM_017022480.1:c.64_67delinsTCCC	XP_016877969.1:n.64_67delinsTCCC
NM_022369.4:c.64_67delinsTCCC MANE Select	NP_071764.3:n.64_67delinsTCCC
NM_001142617.2:c.64_67delinsTCCC	NP_001136089.1:n.64_67delinsTCCC
NM_001142619.2:c.64_67delinsTCCC	NP_001136091.1:n.64_67delinsTCCC
NM_001199042.2:c.64_67delinsTCCC	NP_001185971.1:n.64_67delinsTCCC
NM_001142618.2:c.64_67delinsTCCC	NP_001136090.1:n.64_67delinsTCCC
NM_001199040.2:c.64_67delinsTCCC	NP_001185969.1:n.64_67delinsTCCC
NM_001199041.2:c.64_67delinsTCCC	NP_001185970.1:n.64_67delinsTCCC

HGVS	Amino-acid Change
ENST00000395105.9:c.64_67delinsTCCC MANE Select	ENSP00000378537.4:n.64_67delinsTCCC
ENST00000323940.9:c.64_67delinsTCCC	ENSP00000326085.5:n.64_67delinsTCCC
ENST00000395105.8:c.64_67delinsTCCC	ENSP00000378537.4:n.64_67delinsTCCC
ENST00000416286.7:c.64_67delinsTCCC	ENSP00000400403.3:n.64_67delinsTCCC
ENST00000423167.6:c.64_67delinsTCCC	ENSP00000413012.2:n.64_67delinsTCCC
ENST00000449139.6:c.64_67delinsTCCC	ENSP00000410221.2:n.64_67delinsTCCC
ENST00000535552.5:c.64_67delinsTCCC	ENSP00000440238.1:n.64_67delinsTCCC
ENST00000545137.5:n.1777_1780delinsTCCC
ENST00000563965.5:c.64_67delinsTCCC	ENSP00000456609.1:n.64_67delinsTCCC
ENST00000574278.5:c.64_67delinsTCCC	ENSP00000458827.1:n.64_67delinsTCCC
ENST00000574439.5:n.2340_2343delinsTCCC
ENST00000616000.4:c.64_67delinsTCCC	ENSP00000479112.1:n.64_67delinsTCCC
NM_001142617.1:c.64_67delinsTCCC	NP_001136089.1:n.64_67delinsTCCC
NM_001142618.1:c.64_67delinsTCCC	NP_001136090.1:n.64_67delinsTCCC
NM_001142619.1:c.64_67delinsTCCC	NP_001136091.1:n.64_67delinsTCCC
NM_001199040.1:c.64_67delinsTCCC	NP_001185969.1:n.64_67delinsTCCC
NM_001199041.1:c.64_67delinsTCCC	NP_001185970.1:n.64_67delinsTCCC
NM_001199042.1:c.64_67delinsTCCC	NP_001185971.1:n.64_67delinsTCCC
NM_022369.3:c.64_67delinsTCCC	NP_071764.3:n.64_67delinsTCCC
XM_011521883.1:c.64_67delinsTCCC	XP_011520185.1:n.64_67delinsTCCC
XM_011521884.1:c.64_67delinsTCCC	XP_011520186.1:n.64_67delinsTCCC
XM_017022478.1:c.64_67delinsTCCC	XP_016877967.1:n.64_67delinsTCCC
XM_017022479.1:c.64_67delinsTCCC	XP_016877968.1:n.64_67delinsTCCC
XM_017022480.1:c.64_67delinsTCCC	XP_016877969.1:n.64_67delinsTCCC
NM_022369.4:c.64_67delinsTCCC MANE Select	NP_071764.3:n.64_67delinsTCCC
NM_001142617.2:c.64_67delinsTCCC	NP_001136089.1:n.64_67delinsTCCC
NM_001142619.2:c.64_67delinsTCCC	NP_001136091.1:n.64_67delinsTCCC
NM_001199042.2:c.64_67delinsTCCC	NP_001185971.1:n.64_67delinsTCCC
NM_001142618.2:c.64_67delinsTCCC	NP_001136090.1:n.64_67delinsTCCC
NM_001199040.2:c.64_67delinsTCCC	NP_001185969.1:n.64_67delinsTCCC
NM_001199041.2:c.64_67delinsTCCC	NP_001185970.1:n.64_67delinsTCCC