Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097634_154097636delinsCCG , CM000685.2:g.154097634_154097636delinsCCG	GRCh38
NC_000023.10:g.153363091_153363093delinsCCG , CM000685.1:g.153363091_153363093delinsCCG	GRCh37
NC_000023.9:g.153016285_153016287delinsCCG	NCBI36
NG_007107.2:g.44486_44488delinsCGG
NG_007107.3:g.44468_44470delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-131_-129delinsCGG MANE Plus Clinical	ENSP00000301948.6:n.-131_-129delinsCGG
ENST00000453960.7:c.30_32delinsCGG MANE Select	ENSP00000395535.2:p.Ser10=
ENST00000303391.10:c.-131_-129delinsCGG	ENSP00000301948.6:n.-131_-129delinsCGG
ENST00000369957.5:c.-131_-129delinsCGG	ENSP00000358973.4:n.-131_-129delinsCGG
ENST00000407218.5:c.30_32delinsCGG	ENSP00000384865.2:p.Ser10=
ENST00000453960.6:c.30_32delinsCGG	ENSP00000395535.2:p.Ser10=
ENST00000619732.4:c.-131_-129delinsCGG	ENSP00000480973.1:n.-131_-129delinsCGG
ENST00000627864.1:n.45_47delinsCGG
ENST00000628176.2:c.-131_-129delinsCGG	ENSP00000486978.1:n.-131_-129delinsCGG
ENST00000631210.1:n.305+7145_305+7147delinsCGG
NM_001110792.1:c.30_32delinsCGG	NP_001104262.1:p.Ser10=
NM_001316337.1:c.-578_-576delinsCGG	NP_001303266.1:n.-578_-576delinsCGG
NM_004992.3:c.-131_-129delinsCGG	NP_004983.1:n.-131_-129delinsCGG
XM_005274682.3:c.-522_-520delinsCGG	XP_005274739.1:n.-522_-520delinsCGG
NM_001110792.2:c.30_32delinsCGG MANE Select	NP_001104262.1:p.Ser10=
NM_001316337.2:c.-578_-576delinsCGG	NP_001303266.1:n.-578_-576delinsCGG
NM_001369391.2:c.-873_-871delinsCGG	NP_001356320.1:n.-873_-871delinsCGG
NM_001369392.2:c.-522_-520delinsCGG	NP_001356321.1:n.-522_-520delinsCGG
NM_001369393.2:c.-398_-396delinsCGG	NP_001356322.1:n.-398_-396delinsCGG
NM_001386137.1:c.-803_-801delinsCGG	NP_001373066.1:n.-803_-801delinsCGG
NM_001386138.1:c.-691_-689delinsCGG	NP_001373067.1:n.-691_-689delinsCGG
NM_001386139.1:c.-567_-565delinsCGG	NP_001373068.1:n.-567_-565delinsCGG
NM_004992.4:c.-131_-129delinsCGG MANE Plus Clinical	NP_004983.1:n.-131_-129delinsCGG