Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968204_21968205delinsGT , CM000671.2:g.21968204_21968205delinsGT	GRCh38
NC_000009.11:g.21968203_21968204delinsGT , CM000671.1:g.21968203_21968204delinsGT	GRCh37
NC_000009.10:g.21958203_21958204delinsGT	NCBI36
NG_007485.1:g.31287_31288delinsAC , LRG_11:g.31287_31288delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.24_25delinsAC MANE Select	ENSP00000307101.5:n.24_25delinsAC
ENST00000404796.3:c.348-61229_348-61228delinsGT	ENSP00000385916.2:n.348-61229_348-61228delinsGT
ENST00000579755.2:c.139_140delinsAC MANE Plus Clinical	ENSP00000462950.1:n.139_140delinsAC
ENST00000304494.9:c.24_25delinsAC	ENSP00000307101.5:n.24_25delinsAC
ENST00000361570.4:c.24_25delinsAC	ENSP00000355153.4:n.24_25delinsAC
ENST00000380151.3:c.769_770delinsAC	ENSP00000369496.3:n.769_770delinsAC
ENST00000404796.2:c.348-61229_348-61228delinsGT	ENSP00000385916.2:n.348-61229_348-61228delinsGT
ENST00000494262.5:c.24_25delinsAC	ENSP00000464952.1:n.24_25delinsAC
ENST00000498124.1:c.188_189delinsAC	ENSP00000418915.1:n.188_189delinsAC
ENST00000498628.6:c.24_25delinsAC	ENSP00000467857.1:n.24_25delinsAC
ENST00000530628.2:c.65_66delinsAC	ENSP00000432664.2:n.65_66delinsAC
ENST00000578845.2:c.24_25delinsAC	ENSP00000467390.1:n.24_25delinsAC
ENST00000579122.1:c.4_5delinsAC	ENSP00000464202.1:n.4_5delinsAC
ENST00000579755.1:c.139_140delinsAC	ENSP00000462950.1:n.139_140delinsAC
NM_000077.4:c.24_25delinsAC , LRG_11t1:c.24_25delinsAC	NP_000068.1:n.24_25delinsAC
NM_001195132.1:c.188_189delinsAC	NP_001182061.1:n.188_189delinsAC
NM_058195.3:c.139_140delinsAC , LRG_11t2:c.139_140delinsAC	NP_478102.2:n.139_140delinsAC
NM_058197.4:c.769_770delinsAC	NP_478104.2:n.769_770delinsAC
XM_005251343.1:c.24_25delinsAC	XP_005251400.1:n.24_25delinsAC
XM_011517679.1:c.24_25delinsAC	XP_011515981.1:n.24_25delinsAC
NM_001363763.1:c.24_25delinsAC	NP_001350692.1:n.24_25delinsAC
NM_001363763.2:c.24_25delinsAC	NP_001350692.1:n.24_25delinsAC
NM_000077.5:c.24_25delinsAC MANE Select	NP_000068.1:n.24_25delinsAC
NM_001195132.2:c.188_189delinsAC	NP_001182061.1:n.188_189delinsAC
NM_058195.4:c.139_140delinsAC MANE Plus Clinical	NP_478102.2:n.139_140delinsAC
NM_058197.5:c.418_419delinsAC	NP_478104.2:n.418_419delinsAC

HGVS	Amino-acid Change
ENST00000304494.10:c.24_25delinsAC MANE Select	ENSP00000307101.5:n.24_25delinsAC
ENST00000404796.3:c.348-61229_348-61228delinsGT	ENSP00000385916.2:n.348-61229_348-61228delinsGT
ENST00000579755.2:c.139_140delinsAC MANE Plus Clinical	ENSP00000462950.1:n.139_140delinsAC
ENST00000304494.9:c.24_25delinsAC	ENSP00000307101.5:n.24_25delinsAC
ENST00000361570.4:c.24_25delinsAC	ENSP00000355153.4:n.24_25delinsAC
ENST00000380151.3:c.769_770delinsAC	ENSP00000369496.3:n.769_770delinsAC
ENST00000404796.2:c.348-61229_348-61228delinsGT	ENSP00000385916.2:n.348-61229_348-61228delinsGT
ENST00000494262.5:c.24_25delinsAC	ENSP00000464952.1:n.24_25delinsAC
ENST00000498124.1:c.188_189delinsAC	ENSP00000418915.1:n.188_189delinsAC
ENST00000498628.6:c.24_25delinsAC	ENSP00000467857.1:n.24_25delinsAC
ENST00000530628.2:c.65_66delinsAC	ENSP00000432664.2:n.65_66delinsAC
ENST00000578845.2:c.24_25delinsAC	ENSP00000467390.1:n.24_25delinsAC
ENST00000579122.1:c.4_5delinsAC	ENSP00000464202.1:n.4_5delinsAC
ENST00000579755.1:c.139_140delinsAC	ENSP00000462950.1:n.139_140delinsAC
NM_000077.4:c.24_25delinsAC , LRG_11t1:c.24_25delinsAC	NP_000068.1:n.24_25delinsAC
NM_001195132.1:c.188_189delinsAC	NP_001182061.1:n.188_189delinsAC
NM_058195.3:c.139_140delinsAC , LRG_11t2:c.139_140delinsAC	NP_478102.2:n.139_140delinsAC
NM_058197.4:c.769_770delinsAC	NP_478104.2:n.769_770delinsAC
XM_005251343.1:c.24_25delinsAC	XP_005251400.1:n.24_25delinsAC
XM_011517679.1:c.24_25delinsAC	XP_011515981.1:n.24_25delinsAC
NM_001363763.1:c.24_25delinsAC	NP_001350692.1:n.24_25delinsAC
NM_001363763.2:c.24_25delinsAC	NP_001350692.1:n.24_25delinsAC
NM_000077.5:c.24_25delinsAC MANE Select	NP_000068.1:n.24_25delinsAC
NM_001195132.2:c.188_189delinsAC	NP_001182061.1:n.188_189delinsAC
NM_058195.4:c.139_140delinsAC MANE Plus Clinical	NP_478102.2:n.139_140delinsAC
NM_058197.5:c.418_419delinsAC	NP_478104.2:n.418_419delinsAC