Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120096_11120108delinsAAGTATTTTGGAC , CM000681.2:g.11120096_11120108delinsAAGTATTTTGGAC	GRCh38
NC_000019.9:g.11230772_11230784delinsAAGTATTTTGGAC , CM000681.1:g.11230772_11230784delinsAAGTATTTTGGAC	GRCh37
NC_000019.8:g.11091772_11091784delinsAAGTATTTTGGAC	NCBI36
NG_009060.1:g.35716_35728delinsAAGTATTTTGGAC , LRG_274:g.35716_35728delinsAAGTATTTTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2108_2120delinsAAGTATTTTGGAC	ENSP00000252444.6:p.Lys703=
ENST00000559340.2:c.1710_1722delinsAAGTATTTTGGAC	ENSP00000453696.2:p.Gln570=
ENST00000560467.2:c.1730_1742delinsAAGTATTTTGGAC	ENSP00000453513.2:p.Lys577=
ENST00000558518.6:c.1850_1862delinsAAGTATTTTGGAC MANE Select	ENSP00000454071.1:p.Lys617=
ENST00000252444.9:c.2104_2116delinsAAGTATTTTGGAC
ENST00000455727.6:c.1346_1358delinsAAGTATTTTGGAC	ENSP00000397829.2:p.Lys449=
ENST00000535915.5:c.1727_1739delinsAAGTATTTTGGAC	ENSP00000440520.1:p.Lys576=
ENST00000545707.5:c.1469_1481delinsAAGTATTTTGGAC	ENSP00000437639.1:p.Lys490=
ENST00000557933.5:c.1850_1862delinsAAGTATTTTGGAC	ENSP00000453557.1:p.Lys617=
ENST00000558013.5:c.1850_1862delinsAAGTATTTTGGAC	ENSP00000453346.1:p.Lys617=
ENST00000558518.5:c.1850_1862delinsAAGTATTTTGGAC	ENSP00000454071.1:p.Lys617=
ENST00000559340.1:c.431_443delinsAAGTATTTTGGAC
NM_000527.4:c.1850_1862delinsAAGTATTTTGGAC , LRG_274t1:c.1850_1862delinsAAGTATTTTGGAC	NP_000518.1:p.Lys617=
NM_001195798.1:c.1850_1862delinsAAGTATTTTGGAC	NP_001182727.1:p.Lys617=
NM_001195799.1:c.1727_1739delinsAAGTATTTTGGAC	NP_001182728.1:p.Lys576=
NM_001195800.1:c.1346_1358delinsAAGTATTTTGGAC	NP_001182729.1:p.Lys449=
NM_001195803.1:c.1469_1481delinsAAGTATTTTGGAC	NP_001182732.1:p.Lys490=
XM_011528010.1:c.1850_1862delinsAAGTATTTTGGAC	XP_011526312.1:p.Lys617=
XM_011528011.1:c.1469_1481delinsAAGTATTTTGGAC	XP_011526313.1:p.Lys490=
XR_244074.2:n.1860_1872delinsAAGTATTTTGGAC
XM_011528010.2:c.1850_1862delinsAAGTATTTTGGAC	XP_011526312.1:p.Lys617=
XR_001753685.2:n.1967_1979delinsAAGTATTTTGGAC
XR_001753686.2:n.1827_1839delinsAAGTATTTTGGAC
NM_000527.5:c.1850_1862delinsAAGTATTTTGGAC MANE Select	NP_000518.1:p.Lys617=
NM_001195798.2:c.1850_1862delinsAAGTATTTTGGAC	NP_001182727.1:p.Lys617=
NM_001195799.2:c.1727_1739delinsAAGTATTTTGGAC	NP_001182728.1:p.Lys576=
NM_001195800.2:c.1346_1358delinsAAGTATTTTGGAC	NP_001182729.1:p.Lys449=
NM_001195803.2:c.1469_1481delinsAAGTATTTTGGAC	NP_001182732.1:p.Lys490=