Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997686_120997689delinsACAG , CM000674.2:g.120997686_120997689delinsACAG	GRCh38
NC_000012.11:g.121435489_121435492delinsACAG , CM000674.1:g.121435489_121435492delinsACAG	GRCh37
NC_000012.10:g.119919872_119919875delinsACAG	NCBI36
NG_011731.2:g.23941_23944delinsACAG , LRG_522:g.23941_23944delinsACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.248+21_248+24delinsACAG	ENSP00000453965.2:n.248+21_248+24delinsACAG
ENST00000257555.11:c.1501+21_1501+24delinsACAG MANE Select	ENSP00000257555.5:n.1501+21_1501+24delinsACAG
ENST00000257555.10:c.1501+21_1501+24delinsACAG	ENSP00000257555.4:n.1501+21_1501+24delinsACAG
ENST00000400024.6:c.1522_1525delinsACAG	ENSP00000476181.1:p.Thr508=
ENST00000402929.5:n.2388_2391delinsACAG
ENST00000535955.5:n.238_241delinsACAG
ENST00000538626.2:n.386_389delinsACAG
ENST00000538646.5:c.498_501delinsACAG	ENSP00000443964.1:n.498_501delinsACAG
ENST00000540108.1:c.941+21_941+24delinsACAG	ENSP00000445445.1:n.941+21_941+24delinsACAG
ENST00000541395.5:c.1501+21_1501+24delinsACAG	ENSP00000443112.1:n.1501+21_1501+24delinsACAG
ENST00000541924.5:c.536_539delinsACAG	ENSP00000440361.1:n.536_539delinsACAG
ENST00000543255.1:n.566_569delinsACAG
ENST00000543427.5:c.964+21_964+24delinsACAG	ENSP00000439721.2:n.964+21_964+24delinsACAG
ENST00000544413.2:c.1501+21_1501+24delinsACAG	ENSP00000438804.1:n.1501+21_1501+24delinsACAG
ENST00000544574.5:c.285_288delinsACAG	ENSP00000438565.1:n.285_288delinsACAG
ENST00000560968.5:c.1318+21_1318+24delinsACAG
ENST00000615446.4:c.289+21_289+24delinsACAG	ENSP00000483994.1:n.289+21_289+24delinsACAG
ENST00000617366.4:c.618+21_618+24delinsACAG	ENSP00000481967.1:n.618+21_618+24delinsACAG
NM_000545.5:c.1501+21_1501+24delinsACAG , LRG_522t1:c.1501+21_1501+24delinsACAG	NP_000536.5:n.1501+21_1501+24delinsACAG
NM_000545.6:c.1501+21_1501+24delinsACAG	NP_000536.5:n.1501+21_1501+24delinsACAG
NM_001306179.1:c.1501+21_1501+24delinsACAG	NP_001293108.1:n.1501+21_1501+24delinsACAG
XM_005253931.2:c.1501+21_1501+24delinsACAG	XP_005253988.1:n.1501+21_1501+24delinsACAG
XM_024449168.1:c.1501+21_1501+24delinsACAG	XP_024304936.1:n.1501+21_1501+24delinsACAG
NM_000545.8:c.1501+21_1501+24delinsACAG MANE Select	NP_000536.6:n.1501+21_1501+24delinsACAG
NM_001306179.2:c.1501+21_1501+24delinsACAG	NP_001293108.2:n.1501+21_1501+24delinsACAG