Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997346_120997355delinsTCCTGACCAC , CM000674.2:g.120997346_120997355delinsTCCTGACCAC	GRCh38
NC_000012.11:g.121435149_121435158delinsTCCTGACCAC , CM000674.1:g.121435149_121435158delinsTCCTGACCAC	GRCh37
NC_000012.10:g.119919532_119919541delinsTCCTGACCAC	NCBI36
NG_011731.2:g.23601_23610delinsTCCTGACCAC , LRG_522:g.23601_23610delinsTCCTGACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.57-128_57-119delinsTCCTGACCAC	ENSP00000453965.2:n.57-128_57-119delinsTCCTGACCAC
ENST00000257555.11:c.1310-128_1310-119delinsTCCTGACCAC MANE Select	ENSP00000257555.5:n.1310-128_1310-119delinsTCCTGACCAC
ENST00000257555.10:c.1310-128_1310-119delinsTCCTGACCAC	ENSP00000257555.4:n.1310-128_1310-119delinsTCCTGACCAC
ENST00000400024.6:c.1310-128_1310-119delinsTCCTGACCAC	ENSP00000476181.1:n.1310-128_1310-119delinsTCCTGACCAC
ENST00000402929.5:n.2048_2057delinsTCCTGACCAC
ENST00000535955.5:n.43-145_43-136delinsTCCTGACCAC
ENST00000538626.2:n.191-145_191-136delinsTCCTGACCAC
ENST00000538646.5:c.286-128_286-119delinsTCCTGACCAC	ENSP00000443964.1:n.286-128_286-119delinsTCCTGACCAC
ENST00000540108.1:c.750-128_750-119delinsTCCTGACCAC	ENSP00000445445.1:n.750-128_750-119delinsTCCTGACCAC
ENST00000541395.5:c.1310-128_1310-119delinsTCCTGACCAC	ENSP00000443112.1:n.1310-128_1310-119delinsTCCTGACCAC
ENST00000541924.5:c.324-128_324-119delinsTCCTGACCAC	ENSP00000440361.1:n.324-128_324-119delinsTCCTGACCAC
ENST00000543255.1:n.354-128_354-119delinsTCCTGACCAC
ENST00000543427.5:c.773-128_773-119delinsTCCTGACCAC	ENSP00000439721.2:n.773-128_773-119delinsTCCTGACCAC
ENST00000544413.2:c.1310-128_1310-119delinsTCCTGACCAC	ENSP00000438804.1:n.1310-128_1310-119delinsTCCTGACCAC
ENST00000544574.5:c.73-128_73-119delinsTCCTGACCAC	ENSP00000438565.1:n.73-128_73-119delinsTCCTGACCAC
ENST00000560968.5:c.1127-128_1127-119delinsTCCTGACCAC
ENST00000615446.4:c.98-128_98-119delinsTCCTGACCAC	ENSP00000483994.1:n.98-128_98-119delinsTCCTGACCAC
ENST00000617366.4:c.587-288_587-279delinsTCCTGACCAC	ENSP00000481967.1:n.587-288_587-279delinsTCCTGACCAC
NM_000545.5:c.1310-128_1310-119delinsTCCTGACCAC , LRG_522t1:c.1310-128_1310-119delinsTCCTGACCAC	NP_000536.5:n.1310-128_1310-119delinsTCCTGACCAC
NM_000545.6:c.1310-128_1310-119delinsTCCTGACCAC	NP_000536.5:n.1310-128_1310-119delinsTCCTGACCAC
NM_001306179.1:c.1310-128_1310-119delinsTCCTGACCAC	NP_001293108.1:n.1310-128_1310-119delinsTCCTGACCAC
XM_005253931.2:c.1310-128_1310-119delinsTCCTGACCAC	XP_005253988.1:n.1310-128_1310-119delinsTCCTGACCAC
XM_024449168.1:c.1310-128_1310-119delinsTCCTGACCAC	XP_024304936.1:n.1310-128_1310-119delinsTCCTGACCAC
NM_000545.8:c.1310-128_1310-119delinsTCCTGACCAC MANE Select	NP_000536.6:n.1310-128_1310-119delinsTCCTGACCAC
NM_001306179.2:c.1310-128_1310-119delinsTCCTGACCAC	NP_001293108.2:n.1310-128_1310-119delinsTCCTGACCAC