Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110908_80110910delinsCAG , CM000679.2:g.80110908_80110910delinsCAG	GRCh38
NC_000017.10:g.78084707_78084709delinsCAG , CM000679.1:g.78084707_78084709delinsCAG	GRCh37
NC_000017.9:g.75699302_75699304delinsCAG	NCBI36
NG_009822.1:g.14353_14355delinsCAG , LRG_673:g.14353_14355delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1552-33_1552-31delinsCAG	ENSP00000460543.2:n.1552-33_1552-31delinsCAG
ENST00000572080.2:c.1552-33_1552-31delinsCAG	ENSP00000459972.2:n.1552-33_1552-31delinsCAG
ENST00000577106.6:c.1552-33_1552-31delinsCAG	ENSP00000458306.2:n.1552-33_1552-31delinsCAG
ENST00000302262.8:c.1552-33_1552-31delinsCAG MANE Select	ENSP00000305692.3:n.1552-33_1552-31delinsCAG
ENST00000302262.7:c.1552-33_1552-31delinsCAG	ENSP00000305692.3:n.1552-33_1552-31delinsCAG
ENST00000390015.7:c.1552-33_1552-31delinsCAG	ENSP00000374665.3:n.1552-33_1552-31delinsCAG
NM_000152.3:c.1552-33_1552-31delinsCAG , LRG_673t1:c.1552-33_1552-31delinsCAG	NP_000143.2:n.1552-33_1552-31delinsCAG
NM_001079803.1:c.1552-33_1552-31delinsCAG	NP_001073271.1:n.1552-33_1552-31delinsCAG
NM_001079804.1:c.1552-33_1552-31delinsCAG	NP_001073272.1:n.1552-33_1552-31delinsCAG
XM_005257193.1:c.1552-33_1552-31delinsCAG	XP_005257250.1:n.1552-33_1552-31delinsCAG
XM_005257194.3:c.1552-33_1552-31delinsCAG	XP_005257251.1:n.1552-33_1552-31delinsCAG
NM_000152.4:c.1552-33_1552-31delinsCAG	NP_000143.2:n.1552-33_1552-31delinsCAG
NM_001079803.2:c.1552-33_1552-31delinsCAG	NP_001073271.1:n.1552-33_1552-31delinsCAG
NM_001079804.2:c.1552-33_1552-31delinsCAG	NP_001073272.1:n.1552-33_1552-31delinsCAG
XM_005257193.2:c.1552-33_1552-31delinsCAG	XP_005257250.1:n.1552-33_1552-31delinsCAG
XM_005257194.4:c.1552-33_1552-31delinsCAG	XP_005257251.1:n.1552-33_1552-31delinsCAG
NM_000152.5:c.1552-33_1552-31delinsCAG MANE Select	NP_000143.2:n.1552-33_1552-31delinsCAG
NM_001079803.3:c.1552-33_1552-31delinsCAG	NP_001073271.1:n.1552-33_1552-31delinsCAG
NM_001079804.3:c.1552-33_1552-31delinsCAG	NP_001073272.1:n.1552-33_1552-31delinsCAG