Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244531_3244536delinsCTTTTG , CM000678.2:g.3244531_3244536delinsCTTTTG	GRCh38
NC_000016.9:g.3294531_3294536delinsCTTTTG , CM000678.1:g.3294531_3294536delinsCTTTTG	GRCh37
NC_000016.8:g.3234532_3234537delinsCTTTTG	NCBI36
NG_007871.1:g.17092_17097delinsCAAAAG , LRG_190:g.17092_17097delinsCAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.784_789delinsCAAAAG
ENST00000219596.6:c.1663_1668delinsCAAAAG MANE Select	ENSP00000219596.1:p.Gln555=
ENST00000219596.5:c.1663_1668delinsCAAAAG	ENSP00000219596.1:p.Gln555=
ENST00000339854.8:c.1123_1128delinsCAAAAG	ENSP00000339639.4:p.Gln375=
ENST00000536379.5:c.1030_1035delinsCAAAAG	ENSP00000445079.1:p.Gln344=
ENST00000536980.5:c.1030_1035delinsCAAAAG	ENSP00000444178.1:p.Gln344=
ENST00000537682.5:c.1663_1668delinsCAAAAG	ENSP00000438611.1:p.Gln555=
ENST00000538326.5:c.288_293delinsCAAAAG	ENSP00000437486.1:n.288_293delinsCAAAAG
ENST00000539145.5:c.584_589delinsCAAAAG	ENSP00000444471.1:n.584_589delinsCAAAAG
ENST00000541159.5:c.1030_1035delinsCAAAAG	ENSP00000438711.1:p.Gln344=
ENST00000542898.5:c.1756_1761delinsCAAAAG	ENSP00000444615.1:p.Gln586=
ENST00000570511.5:c.1165-644_1165-639delinsCAAAAG	ENSP00000458312.1:n.1165-644_1165-639delinsCAAAAG
ENST00000572244.5:c.353_358delinsCAAAAG	ENSP00000461186.1:n.353_358delinsCAAAAG
ENST00000574583.5:c.532-644_532-639delinsCAAAAG	ENSP00000460269.1:n.532-644_532-639delinsCAAAAG
ENST00000576315.5:c.532-250_532-245delinsCAAAAG	ENSP00000460551.1:n.532-250_532-245delinsCAAAAG
ENST00000621655.1:c.1030_1035delinsCAAAAG	ENSP00000481436.1:p.Gln344=
NM_000243.2:c.1663_1668delinsCAAAAG , LRG_190t1:c.1663_1668delinsCAAAAG	NP_000234.1:p.Gln555=
NM_001198536.1:c.1030_1035delinsCAAAAG	NP_001185465.1:p.Gln344=
XM_017023236.2:c.1660_1665delinsCAAAAG	XP_016878725.1:p.Gln554=
XR_001751903.1:n.1852_1857delinsCAAAAG
NM_000243.3:c.1663_1668delinsCAAAAG MANE Select	NP_000234.1:p.Gln555=
NM_001198536.2:c.1030_1035delinsCAAAAG	NP_001185465.2:p.Gln344=