Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325279_89325280delinsAG , CM000677.2:g.89325279_89325280delinsAG	GRCh38
NC_000015.9:g.89868510_89868511delinsAG , CM000677.1:g.89868510_89868511delinsAG	GRCh37
NC_000015.8:g.87669514_87669515delinsAG	NCBI36
NG_008218.1:g.14516_14517delinsCT
NG_008218.2:g.14516_14517delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+170_1949+171delinsCT	ENSP00000516154.1:n.1949+170_1949+171delinsCT
ENST00000268124.11:c.1949+170_1949+171delinsCT MANE Select	ENSP00000268124.5:n.1949+170_1949+171delinsCT
ENST00000530292.3:c.1550+170_1550+171delinsCT	ENSP00000432885.2:n.1550+170_1550+171delinsCT
ENST00000635986.2:c.1949+170_1949+171delinsCT	ENSP00000490653.2:n.1949+170_1949+171delinsCT
ENST00000636774.1:c.516+170_516+171delinsCT	ENSP00000489799.1:n.516+170_516+171delinsCT
ENST00000637238.1:c.646+210_646+211delinsCT	ENSP00000490756.1:n.646+210_646+211delinsCT
ENST00000637264.1:c.1021+170_1021+171delinsCT
ENST00000666746.1:c.1526+170_1526+171delinsCT
ENST00000670281.1:c.269+170_269+171delinsCT	ENSP00000499709.1:n.269+170_269+171delinsCT
ENST00000672071.1:n.2147+170_2147+171delinsCT
ENST00000672923.2:n.2052+170_2052+171delinsCT
ENST00000268124.9:c.1949+170_1949+171delinsCT	ENSP00000268124.5:n.1949+170_1949+171delinsCT
ENST00000442287.6:c.1949+170_1949+171delinsCT	ENSP00000399851.2:n.1949+170_1949+171delinsCT
ENST00000526314.2:c.331+170_331+171delinsCT
ENST00000526398.1:c.138+170_138+171delinsCT
ENST00000526573.1:n.35+170_35+171delinsCT
ENST00000532584.5:n.151+170_151+171delinsCT
ENST00000631044.2:c.1332+170_1332+171delinsCT	ENSP00000486730.1:n.1332+170_1332+171delinsCT
NM_001126131.1:c.1949+170_1949+171delinsCT	NP_001119603.1:n.1949+170_1949+171delinsCT
NM_002693.2:c.1949+170_1949+171delinsCT	NP_002684.1:n.1949+170_1949+171delinsCT
NM_001126131.2:c.1949+170_1949+171delinsCT	NP_001119603.1:n.1949+170_1949+171delinsCT
NM_002693.3:c.1949+170_1949+171delinsCT MANE Select	NP_002684.1:n.1949+170_1949+171delinsCT