Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89936936_89936937delinsCA , CM000670.2:g.89936936_89936937delinsCA	GRCh38
NC_000008.10:g.90949164_90949165delinsCA , CM000670.1:g.90949164_90949165delinsCA	GRCh37
NC_000008.9:g.91018340_91018341delinsCA	NCBI36
NG_008860.1:g.52735_52736delinsTG , LRG_158:g.52735_52736delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654+89_3654+90delinsTG
ENST00000494804.2:n.3536+89_3536+90delinsTG
ENST00000517337.2:c.1988+89_1988+90delinsTG	ENSP00000429971.2:n.1988+89_1988+90delinsTG
ENST00000523444.2:c.1988+89_1988+90delinsTG	ENSP00000428252.2:n.1988+89_1988+90delinsTG
ENST00000697292.1:c.2234+89_2234+90delinsTG	ENSP00000513229.1:n.2234+89_2234+90delinsTG
ENST00000697293.1:c.2285+89_2285+90delinsTG	ENSP00000513230.1:n.2285+89_2285+90delinsTG
ENST00000697294.1:c.1845+89_1845+90delinsTG	ENSP00000513231.1:n.1845+89_1845+90delinsTG
ENST00000697295.1:c.1543+89_1543+90delinsTG	ENSP00000513232.1:n.1543+89_1543+90delinsTG
ENST00000697296.1:c.1902+89_1902+90delinsTG	ENSP00000513233.1:n.1902+89_1902+90delinsTG
ENST00000697297.1:n.4019+89_4019+90delinsTG
ENST00000697298.1:c.1988+89_1988+90delinsTG	ENSP00000513234.1:n.1988+89_1988+90delinsTG
ENST00000697299.1:c.1988+89_1988+90delinsTG	ENSP00000513235.1:n.1988+89_1988+90delinsTG
ENST00000697300.1:c.1838+89_1838+90delinsTG	ENSP00000513236.1:n.1838+89_1838+90delinsTG
ENST00000697301.1:c.1755+89_1755+90delinsTG	ENSP00000513237.1:n.1755+89_1755+90delinsTG
ENST00000697302.1:c.1755+89_1755+90delinsTG	ENSP00000513238.1:n.1755+89_1755+90delinsTG
ENST00000697303.1:c.1838+89_1838+90delinsTG	ENSP00000513239.1:n.1838+89_1838+90delinsTG
ENST00000697304.1:c.1922+89_1922+90delinsTG	ENSP00000513240.1:n.1922+89_1922+90delinsTG
ENST00000697305.1:n.2501+89_2501+90delinsTG
ENST00000697306.1:c.2785+89_2785+90delinsTG	ENSP00000513241.1:n.2785+89_2785+90delinsTG
ENST00000697307.1:c.2009+89_2009+90delinsTG	ENSP00000513242.1:n.2009+89_2009+90delinsTG
ENST00000697308.1:c.2165+89_2165+90delinsTG	ENSP00000513243.1:n.2165+89_2165+90delinsTG
ENST00000697309.1:c.2185-1325_2185-1324delinsTG	ENSP00000513244.1:n.2185-1325_2185-1324delinsTG
ENST00000697310.1:c.2234+89_2234+90delinsTG	ENSP00000513245.1:n.2234+89_2234+90delinsTG
ENST00000697311.1:c.499+89_499+90delinsTG	ENSP00000513246.1:n.499+89_499+90delinsTG
ENST00000697312.1:c.1687+89_1687+90delinsTG	ENSP00000513247.1:n.1687+89_1687+90delinsTG
ENST00000697313.1:n.2688-1325_2688-1324delinsTG
ENST00000697314.1:n.3637-1325_3637-1324delinsTG
ENST00000697315.1:c.138+89_138+90delinsTG	ENSP00000513248.1:n.138+89_138+90delinsTG
ENST00000697316.1:n.2444_2445delinsTG
ENST00000265433.8:c.2234+89_2234+90delinsTG MANE Select	ENSP00000265433.4:n.2234+89_2234+90delinsTG
ENST00000265433.7:c.2234+89_2234+90delinsTG	ENSP00000265433.3:n.2234+89_2234+90delinsTG
ENST00000396252.6:c.2107+89_2107+90delinsTG	ENSP00000379551.2:n.2107+89_2107+90delinsTG
ENST00000409330.5:c.1988+89_1988+90delinsTG	ENSP00000386924.1:n.1988+89_1988+90delinsTG
ENST00000474821.1:n.322+89_322+90delinsTG
ENST00000613033.1:c.344+89_344+90delinsTG	ENSP00000484487.1:n.344+89_344+90delinsTG
NM_001024688.2:c.1988+89_1988+90delinsTG	NP_001019859.1:n.1988+89_1988+90delinsTG
NM_002485.4:c.2234+89_2234+90delinsTG , LRG_158t1:c.2234+89_2234+90delinsTG	NP_002476.2:n.2234+89_2234+90delinsTG
XM_011517044.1:c.2210+89_2210+90delinsTG	XP_011515346.1:n.2210+89_2210+90delinsTG
XM_011517045.1:c.1988+89_1988+90delinsTG	XP_011515347.1:n.1988+89_1988+90delinsTG
XM_017013460.1:c.1355+89_1355+90delinsTG	XP_016868949.1:n.1355+89_1355+90delinsTG
XM_017013462.2:c.1355+89_1355+90delinsTG	XP_016868951.1:n.1355+89_1355+90delinsTG
XM_024447163.1:c.1988+89_1988+90delinsTG	XP_024302931.1:n.1988+89_1988+90delinsTG
XM_024447164.1:c.1988+89_1988+90delinsTG	XP_024302932.1:n.1988+89_1988+90delinsTG
XM_024447165.1:c.1355+89_1355+90delinsTG	XP_024302933.1:n.1355+89_1355+90delinsTG
NM_002485.5:c.2234+89_2234+90delinsTG MANE Select	NP_002476.2:n.2234+89_2234+90delinsTG
NM_001024688.3:c.1988+89_1988+90delinsTG	NP_001019859.1:n.1988+89_1988+90delinsTG