Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325300_89325301delinsGT , CM000677.2:g.89325300_89325301delinsGT	GRCh38
NC_000015.9:g.89868531_89868532delinsGT , CM000677.1:g.89868531_89868532delinsGT	GRCh37
NC_000015.8:g.87669535_87669536delinsGT	NCBI36
NG_008218.1:g.14495_14496delinsAC
NG_008218.2:g.14495_14496delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+149_1949+150delinsAC	ENSP00000516154.1:n.1949+149_1949+150delinsAC
ENST00000268124.11:c.1949+149_1949+150delinsAC MANE Select	ENSP00000268124.5:n.1949+149_1949+150delinsAC
ENST00000530292.3:c.1550+149_1550+150delinsAC	ENSP00000432885.2:n.1550+149_1550+150delinsAC
ENST00000635986.2:c.1949+149_1949+150delinsAC	ENSP00000490653.2:n.1949+149_1949+150delinsAC
ENST00000636774.1:c.516+149_516+150delinsAC	ENSP00000489799.1:n.516+149_516+150delinsAC
ENST00000637238.1:c.646+189_646+190delinsAC	ENSP00000490756.1:n.646+189_646+190delinsAC
ENST00000637264.1:c.1021+149_1021+150delinsAC
ENST00000666746.1:c.1526+149_1526+150delinsAC
ENST00000670281.1:c.269+149_269+150delinsAC	ENSP00000499709.1:n.269+149_269+150delinsAC
ENST00000672071.1:n.2147+149_2147+150delinsAC
ENST00000672923.2:n.2052+149_2052+150delinsAC
ENST00000268124.9:c.1949+149_1949+150delinsAC	ENSP00000268124.5:n.1949+149_1949+150delinsAC
ENST00000442287.6:c.1949+149_1949+150delinsAC	ENSP00000399851.2:n.1949+149_1949+150delinsAC
ENST00000526314.2:c.331+149_331+150delinsAC
ENST00000526398.1:c.138+149_138+150delinsAC
ENST00000526573.1:n.35+149_35+150delinsAC
ENST00000532584.5:n.151+149_151+150delinsAC
ENST00000631044.2:c.1332+149_1332+150delinsAC	ENSP00000486730.1:n.1332+149_1332+150delinsAC
NM_001126131.1:c.1949+149_1949+150delinsAC	NP_001119603.1:n.1949+149_1949+150delinsAC
NM_002693.2:c.1949+149_1949+150delinsAC	NP_002684.1:n.1949+149_1949+150delinsAC
NM_001126131.2:c.1949+149_1949+150delinsAC	NP_001119603.1:n.1949+149_1949+150delinsAC
NM_002693.3:c.1949+149_1949+150delinsAC MANE Select	NP_002684.1:n.1949+149_1949+150delinsAC