Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997690_120997693delinsCAGG , CM000674.2:g.120997690_120997693delinsCAGG	GRCh38
NC_000012.11:g.121435493_121435496delinsCAGG , CM000674.1:g.121435493_121435496delinsCAGG	GRCh37
NC_000012.10:g.119919876_119919879delinsCAGG	NCBI36
NG_011731.2:g.23945_23948delinsCAGG , LRG_522:g.23945_23948delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.248+25_248+28delinsCAGG	ENSP00000453965.2:n.248+25_248+28delinsCAGG
ENST00000257555.11:c.1501+25_1501+28delinsCAGG MANE Select	ENSP00000257555.5:n.1501+25_1501+28delinsCAGG
ENST00000257555.10:c.1501+25_1501+28delinsCAGG	ENSP00000257555.4:n.1501+25_1501+28delinsCAGG
ENST00000400024.6:c.1526_1529delinsCAGG	ENSP00000476181.1:p.Ala509=
ENST00000402929.5:n.2392_2395delinsCAGG
ENST00000535955.5:n.242_245delinsCAGG
ENST00000538626.2:n.390_393delinsCAGG
ENST00000538646.5:c.502_505delinsCAGG	ENSP00000443964.1:n.502_505delinsCAGG
ENST00000540108.1:c.941+25_941+28delinsCAGG	ENSP00000445445.1:n.941+25_941+28delinsCAGG
ENST00000541395.5:c.1501+25_1501+28delinsCAGG	ENSP00000443112.1:n.1501+25_1501+28delinsCAGG
ENST00000541924.5:c.540_543delinsCAGG	ENSP00000440361.1:n.540_543delinsCAGG
ENST00000543255.1:n.570_573delinsCAGG
ENST00000543427.5:c.964+25_964+28delinsCAGG	ENSP00000439721.2:n.964+25_964+28delinsCAGG
ENST00000544413.2:c.1501+25_1501+28delinsCAGG	ENSP00000438804.1:n.1501+25_1501+28delinsCAGG
ENST00000544574.5:c.289_292delinsCAGG	ENSP00000438565.1:n.289_292delinsCAGG
ENST00000560968.5:c.1318+25_1318+28delinsCAGG
ENST00000615446.4:c.289+25_289+28delinsCAGG	ENSP00000483994.1:n.289+25_289+28delinsCAGG
ENST00000617366.4:c.618+25_618+28delinsCAGG	ENSP00000481967.1:n.618+25_618+28delinsCAGG
NM_000545.5:c.1501+25_1501+28delinsCAGG , LRG_522t1:c.1501+25_1501+28delinsCAGG	NP_000536.5:n.1501+25_1501+28delinsCAGG
NM_000545.6:c.1501+25_1501+28delinsCAGG	NP_000536.5:n.1501+25_1501+28delinsCAGG
NM_001306179.1:c.1501+25_1501+28delinsCAGG	NP_001293108.1:n.1501+25_1501+28delinsCAGG
XM_005253931.2:c.1501+25_1501+28delinsCAGG	XP_005253988.1:n.1501+25_1501+28delinsCAGG
XM_024449168.1:c.1501+25_1501+28delinsCAGG	XP_024304936.1:n.1501+25_1501+28delinsCAGG
NM_000545.8:c.1501+25_1501+28delinsCAGG MANE Select	NP_000536.6:n.1501+25_1501+28delinsCAGG
NM_001306179.2:c.1501+25_1501+28delinsCAGG	NP_001293108.2:n.1501+25_1501+28delinsCAGG