Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44895197_44895199delinsCAG , CM000683.2:g.44895197_44895199delinsCAG	GRCh38
NC_000021.8:g.46315112_46315114delinsCAG , CM000683.1:g.46315112_46315114delinsCAG	GRCh37
NC_000021.7:g.45139540_45139542delinsCAG	NCBI36
NG_007270.2:g.38640_38642delinsCTG , LRG_76:g.38640_38642delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1066-139_1066-137delinsCTG	ENSP00000303242.6:n.1066-139_1066-137delinsCTG
ENST00000652462.1:c.994-139_994-137delinsCTG MANE Select	ENSP00000498780.1:n.994-139_994-137delinsCTG
ENST00000302347.9:c.994-139_994-137delinsCTG	ENSP00000303242.5:n.994-139_994-137delinsCTG
ENST00000355153.8:c.994-139_994-137delinsCTG	ENSP00000347279.4:n.994-139_994-137delinsCTG
ENST00000397850.6:c.994-139_994-137delinsCTG	ENSP00000380948.2:n.994-139_994-137delinsCTG
ENST00000397852.5:c.994-139_994-137delinsCTG	ENSP00000380950.1:n.994-139_994-137delinsCTG
ENST00000397854.7:c.823-139_823-137delinsCTG	ENSP00000380952.3:n.823-139_823-137delinsCTG
ENST00000397857.5:c.994-139_994-137delinsCTG	ENSP00000380955.1:n.994-139_994-137delinsCTG
ENST00000498666.5:n.1137-139_1137-137delinsCTG
ENST00000523323.5:c.821-139_821-137delinsCTG	ENSP00000427732.1:n.821-139_821-137delinsCTG
ENST00000610622.4:c.823-139_823-137delinsCTG	ENSP00000480700.1:n.823-139_823-137delinsCTG
NM_000211.4:c.994-139_994-137delinsCTG	NP_000202.3:n.994-139_994-137delinsCTG
NM_001127491.2:c.994-139_994-137delinsCTG	NP_001120963.2:n.994-139_994-137delinsCTG
NM_001303238.1:c.787-139_787-137delinsCTG	NP_001290167.1:n.787-139_787-137delinsCTG
XM_006724001.1:c.787-139_787-137delinsCTG	XP_006724064.1:n.787-139_787-137delinsCTG
XM_006724001.2:c.787-139_787-137delinsCTG	XP_006724064.1:n.787-139_787-137delinsCTG
NM_000211.5:c.994-139_994-137delinsCTG MANE Select	NP_000202.3:n.994-139_994-137delinsCTG
NM_001127491.3:c.994-139_994-137delinsCTG	NP_001120963.2:n.994-139_994-137delinsCTG
NM_001303238.2:c.787-139_787-137delinsCTG	NP_001290167.1:n.787-139_787-137delinsCTG