Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030803_154030804insCT , CM000685.2:g.154030803_154030804insCT	GRCh38
NC_000023.10:g.153296254_153296255insCT , CM000685.1:g.153296254_153296255insCT	GRCh37
NC_000023.9:g.152949448_152949449insCT	NCBI36
NG_007107.2:g.111324_111325insAG
NG_007107.3:g.111300_111301insAG

Transcript Alleles

HGVS	Amino-acid Change
NM_001110792.2:c.1060_1061insAG MANE Select	NP_001104262.1:p.Pro354GlnfsTer?
ENST00000453960.7:c.1060_1061insAG MANE Select	ENSP00000395535.2:p.Pro354GlnfsTer?
NM_004992.4:c.1024_1025insAG MANE Plus Clinical	NP_004983.1:p.Pro342GlnfsTer?
ENST00000303391.11:c.1024_1025insAG MANE Plus Clinical	ENSP00000301948.6:p.Pro342GlnfsTer?
NM_001110792.1:c.1060_1061insAG	NP_001104262.1:p.Pro354GlnfsTer?
NM_001316337.1:c.745_746insAG	NP_001303266.1:p.Pro249GlnfsTer?
NM_001316337.2:c.745_746insAG	NP_001303266.1:p.Pro249GlnfsTer?
NM_001369391.2:c.745_746insAG	NP_001356320.1:p.Pro249GlnfsTer?
NM_001369392.2:c.745_746insAG	NP_001356321.1:p.Pro249GlnfsTer?
NM_001369393.2:c.745_746insAG	NP_001356322.1:p.Pro249GlnfsTer?
NM_001369394.1:c.745_746insAG	NP_001356323.1:p.Pro249GlnfsTer?
NM_001369394.2:c.745_746insAG	NP_001356323.1:p.Pro249GlnfsTer?
NM_001386137.1:c.355_356insAG	NP_001373066.1:p.Pro119GlnfsTer?
NM_001386138.1:c.355_356insAG	NP_001373067.1:p.Pro119GlnfsTer?
NM_001386139.1:c.355_356insAG	NP_001373068.1:p.Pro119GlnfsTer?
NM_004992.3:c.1024_1025insAG	NP_004983.1:p.Pro342GlnfsTer?
ENST00000303391.10:c.1024_1025insAG	ENSP00000301948.6:p.Pro342GlnfsTer?
ENST00000407218.5:c.396_397insAG	ENSP00000384865.2:n.396_397insAG
ENST00000453960.6:c.1060_1061insAG	ENSP00000395535.2:p.Pro354GlnfsTer?
ENST00000619732.4:c.1024_1025insAG	ENSP00000480973.1:p.Pro342GlnfsTer?
ENST00000628176.2:c.396_397insAG	ENSP00000486978.1:n.396_397insAG
XM_005274681.3:c.1024_1025insAG	XP_005274738.1:p.Pro342GlnfsTer?
XM_005274682.3:c.745_746insAG	XP_005274739.1:p.Pro249GlnfsTer?
XM_005274683.3:c.745_746insAG	XP_005274740.1:p.Pro249GlnfsTer?
XM_006724819.2:c.355_356insAG	XP_006724882.1:p.Pro119GlnfsTer?
XM_006724819.3:c.355_356insAG	XP_006724882.1:p.Pro119GlnfsTer?
XM_011531166.1:c.745_746insAG	XP_011529468.1:p.Pro249GlnfsTer?
XM_011531166.2:c.745_746insAG	XP_011529468.1:p.Pro249GlnfsTer?
XM_024452383.1:c.745_746insAG	XP_024308151.1:p.Pro249GlnfsTer?
XM_024452384.1:c.745_746insAG	XP_024308152.1:p.Pro249GlnfsTer?