Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318347_89318350delinsCTTT , CM000677.2:g.89318347_89318350delinsCTTT	GRCh38
NC_000015.9:g.89861578_89861581delinsCTTT , CM000677.1:g.89861578_89861581delinsCTTT	GRCh37
NC_000015.8:g.87662582_87662585delinsCTTT	NCBI36
NG_008218.1:g.21446_21449delinsAAAG
NG_011736.1:g.79385_79388delinsCTTT , LRG_500:g.79385_79388delinsCTTT
NG_008218.2:g.21446_21449delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+191_3482+194delinsAAAG	ENSP00000516154.1:n.3482+191_3482+194delinsAAAG
ENST00000268124.11:c.3482+191_3482+194delinsAAAG MANE Select	ENSP00000268124.5:n.3482+191_3482+194delinsAAAG
ENST00000530292.3:c.3083+191_3083+194delinsAAAG	ENSP00000432885.2:n.3083+191_3083+194delinsAAAG
ENST00000635986.2:c.552+191_552+194delinsAAAG	ENSP00000490653.2:n.552+191_552+194delinsAAAG
ENST00000636774.1:c.2049+191_2049+194delinsAAAG	ENSP00000489799.1:n.2049+191_2049+194delinsAAAG
ENST00000637238.1:c.2291+191_2291+194delinsAAAG	ENSP00000490756.1:n.2291+191_2291+194delinsAAAG
ENST00000637264.1:c.2554+191_2554+194delinsAAAG
ENST00000666746.1:c.3059+191_3059+194delinsAAAG
ENST00000672071.1:n.3871_3874delinsAAAG
ENST00000672695.1:n.850_853delinsAAAG
ENST00000672923.2:n.3482+191_3482+194delinsAAAG
ENST00000268124.9:c.3482+191_3482+194delinsAAAG	ENSP00000268124.5:n.3482+191_3482+194delinsAAAG
ENST00000442287.6:c.3482+191_3482+194delinsAAAG	ENSP00000399851.2:n.3482+191_3482+194delinsAAAG
ENST00000530292.2:c.566+191_566+194delinsAAAG	ENSP00000432885.1:n.566+191_566+194delinsAAAG
ENST00000631044.2:c.2906+191_2906+194delinsAAAG	ENSP00000486730.1:n.2906+191_2906+194delinsAAAG
NM_001126131.1:c.3482+191_3482+194delinsAAAG	NP_001119603.1:n.3482+191_3482+194delinsAAAG
NM_002693.2:c.3482+191_3482+194delinsAAAG	NP_002684.1:n.3482+191_3482+194delinsAAAG
NM_001126131.2:c.3482+191_3482+194delinsAAAG	NP_001119603.1:n.3482+191_3482+194delinsAAAG
NM_002693.3:c.3482+191_3482+194delinsAAAG MANE Select	NP_002684.1:n.3482+191_3482+194delinsAAAG