Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997743_120997744delinsTG , CM000674.2:g.120997743_120997744delinsTG	GRCh38
NC_000012.11:g.121435546_121435547delinsTG , CM000674.1:g.121435546_121435547delinsTG	GRCh37
NC_000012.10:g.119919929_119919930delinsTG	NCBI36
NG_011731.2:g.23998_23999delinsTG , LRG_522:g.23998_23999delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.248+78_248+79delinsTG	ENSP00000453965.2:n.248+78_248+79delinsTG
ENST00000257555.11:c.1501+78_1501+79delinsTG MANE Select	ENSP00000257555.5:n.1501+78_1501+79delinsTG
ENST00000257555.10:c.1501+78_1501+79delinsTG	ENSP00000257555.4:n.1501+78_1501+79delinsTG
ENST00000400024.6:c.1579_1580delinsTG	ENSP00000476181.1:p.Trp527=
ENST00000402929.5:n.2445_2446delinsTG
ENST00000535955.5:n.295_296delinsTG
ENST00000538626.2:n.443_444delinsTG
ENST00000538646.5:c.555_556delinsTG	ENSP00000443964.1:n.555_556delinsTG
ENST00000540108.1:c.941+78_941+79delinsTG	ENSP00000445445.1:n.941+78_941+79delinsTG
ENST00000541395.5:c.1501+78_1501+79delinsTG	ENSP00000443112.1:n.1501+78_1501+79delinsTG
ENST00000541924.5:c.593_594delinsTG	ENSP00000440361.1:n.593_594delinsTG
ENST00000543255.1:n.623_624delinsTG
ENST00000543427.5:c.964+78_964+79delinsTG	ENSP00000439721.2:n.964+78_964+79delinsTG
ENST00000544413.2:c.1501+78_1501+79delinsTG	ENSP00000438804.1:n.1501+78_1501+79delinsTG
ENST00000544574.5:c.342_343delinsTG	ENSP00000438565.1:n.342_343delinsTG
ENST00000560968.5:c.1318+78_1318+79delinsTG
ENST00000615446.4:c.289+78_289+79delinsTG	ENSP00000483994.1:n.289+78_289+79delinsTG
ENST00000617366.4:c.618+78_618+79delinsTG	ENSP00000481967.1:n.618+78_618+79delinsTG
NM_000545.5:c.1501+78_1501+79delinsTG , LRG_522t1:c.1501+78_1501+79delinsTG	NP_000536.5:n.1501+78_1501+79delinsTG
NM_000545.6:c.1501+78_1501+79delinsTG	NP_000536.5:n.1501+78_1501+79delinsTG
NM_001306179.1:c.1501+78_1501+79delinsTG	NP_001293108.1:n.1501+78_1501+79delinsTG
XM_005253931.2:c.1501+78_1501+79delinsTG	XP_005253988.1:n.1501+78_1501+79delinsTG
XM_024449168.1:c.1501+78_1501+79delinsTG	XP_024304936.1:n.1501+78_1501+79delinsTG
NM_000545.8:c.1501+78_1501+79delinsTG MANE Select	NP_000536.6:n.1501+78_1501+79delinsTG
NM_001306179.2:c.1501+78_1501+79delinsTG	NP_001293108.2:n.1501+78_1501+79delinsTG