Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7688867_7688871delinsTTCTC , CM000679.2:g.7688867_7688871delinsTTCTC	GRCh38
NC_000017.10:g.7592185_7592189delinsTTCTC , CM000679.1:g.7592185_7592189delinsTTCTC	GRCh37
NC_000017.9:g.7532910_7532914delinsTTCTC	NCBI36
NG_017013.2:g.3680_3684delinsGAGAA , LRG_321:g.3680_3684delinsGAGAA
NG_028245.1:g.7797_7801delinsTTCTC , LRG_375:g.7797_7801delinsTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698742.1:c.219_223delinsTTCTC	ENSP00000513904.1:p.Val73=
ENST00000698743.1:c.219_223delinsTTCTC	ENSP00000513905.1:p.Val73=
ENST00000698744.1:c.219_223delinsTTCTC	ENSP00000513906.1:p.Val73=
ENST00000698745.1:c.219_223delinsTTCTC	ENSP00000513907.1:p.Val73=
ENST00000698746.1:c.219_223delinsTTCTC	ENSP00000513908.1:p.Val73=
ENST00000396463.7:c.219_223delinsTTCTC MANE Select	ENSP00000379727.3:p.Val73=
ENST00000316024.9:c.219_223delinsTTCTC	ENSP00000324203.5:p.Val73=
ENST00000396463.6:c.219_223delinsTTCTC	ENSP00000379727.2:p.Val73=
ENST00000431639.6:c.219_223delinsTTCTC	ENSP00000397219.2:p.Val73=
ENST00000457584.6:c.219_223delinsTTCTC	ENSP00000411061.2:p.Val73=
ENST00000467699.5:n.305_309delinsTTCTC
ENST00000498311.5:c.219_223delinsTTCTC	ENSP00000432991.1:p.Val73=
ENST00000534050.5:c.219_223delinsTTCTC	ENSP00000434999.1:p.Val73=
NM_001143990.1:c.219_223delinsTTCTC	NP_001137462.1:p.Val73=
NM_001143991.1:c.219_223delinsTTCTC	NP_001137463.1:p.Val73=
NM_001143992.1:c.219_223delinsTTCTC	NP_001137464.1:p.Val73=
NM_018081.2:c.219_223delinsTTCTC , LRG_375t1:c.219_223delinsTTCTC	NP_060551.2:p.Val73=
XM_011523952.2:c.-414_-410delinsTTCTC	XP_011522254.1:n.-414_-410delinsTTCTC
XM_024450824.1:c.-1857_-1853delinsTTCTC	XP_024306592.1:n.-1857_-1853delinsTTCTC
XM_024450825.1:c.219_223delinsTTCTC	XP_024306593.1:p.Val73=
XR_001752551.2:n.464_468delinsTTCTC
NM_001143991.2:c.219_223delinsTTCTC	NP_001137463.1:p.Val73=
NM_001143992.2:c.219_223delinsTTCTC MANE Select	NP_001137464.1:p.Val73=
NM_001143990.2:c.219_223delinsTTCTC	NP_001137462.1:p.Val73=