Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80116885_80116886delinsTC , CM000679.2:g.80116885_80116886delinsTC	GRCh38
NC_000017.10:g.78090684_78090685delinsTC , CM000679.1:g.78090684_78090685delinsTC	GRCh37
NC_000017.9:g.75705279_75705280delinsTC	NCBI36
NG_009822.1:g.20330_20331delinsTC , LRG_673:g.20330_20331delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2190-83_2190-82delinsTC	ENSP00000460543.2:n.2190-83_2190-82delinsTC
ENST00000572080.2:c.328-83_328-82delinsTC	ENSP00000459972.2:n.328-83_328-82delinsTC
ENST00000577106.6:c.2190-83_2190-82delinsTC	ENSP00000458306.2:n.2190-83_2190-82delinsTC
ENST00000302262.8:c.2190-83_2190-82delinsTC MANE Select	ENSP00000305692.3:n.2190-83_2190-82delinsTC
ENST00000302262.7:c.2190-83_2190-82delinsTC	ENSP00000305692.3:n.2190-83_2190-82delinsTC
ENST00000390015.7:c.2190-83_2190-82delinsTC	ENSP00000374665.3:n.2190-83_2190-82delinsTC
ENST00000572080.1:c.609-83_609-82delinsTC
ENST00000573556.1:n.60_61delinsTC
NM_000152.3:c.2190-83_2190-82delinsTC , LRG_673t1:c.2190-83_2190-82delinsTC	NP_000143.2:n.2190-83_2190-82delinsTC
NM_001079803.1:c.2190-83_2190-82delinsTC	NP_001073271.1:n.2190-83_2190-82delinsTC
NM_001079804.1:c.2190-83_2190-82delinsTC	NP_001073272.1:n.2190-83_2190-82delinsTC
XM_005257193.1:c.2190-83_2190-82delinsTC	XP_005257250.1:n.2190-83_2190-82delinsTC
XM_005257194.3:c.2190-83_2190-82delinsTC	XP_005257251.1:n.2190-83_2190-82delinsTC
NM_000152.4:c.2190-83_2190-82delinsTC	NP_000143.2:n.2190-83_2190-82delinsTC
NM_001079803.2:c.2190-83_2190-82delinsTC	NP_001073271.1:n.2190-83_2190-82delinsTC
NM_001079804.2:c.2190-83_2190-82delinsTC	NP_001073272.1:n.2190-83_2190-82delinsTC
XM_005257193.2:c.2190-83_2190-82delinsTC	XP_005257250.1:n.2190-83_2190-82delinsTC
XM_005257194.4:c.2190-83_2190-82delinsTC	XP_005257251.1:n.2190-83_2190-82delinsTC
NM_000152.5:c.2190-83_2190-82delinsTC MANE Select	NP_000143.2:n.2190-83_2190-82delinsTC
NM_001079803.3:c.2190-83_2190-82delinsTC	NP_001073271.1:n.2190-83_2190-82delinsTC
NM_001079804.3:c.2190-83_2190-82delinsTC	NP_001073272.1:n.2190-83_2190-82delinsTC