Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614688_57614694delinsGGTGTCC , CM000673.2:g.57614688_57614694delinsGGTGTCC	GRCh38
NC_000011.9:g.57382161_57382167delinsGGTGTCC , CM000673.1:g.57382161_57382167delinsGGTGTCC	GRCh37
NC_000011.8:g.57138737_57138743delinsGGTGTCC	NCBI36
NG_009625.1:g.22135_22141delinsGGTGTCC , LRG_105:g.22135_22141delinsGGTGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.107_113delinsGGTGTCC MANE Select	ENSP00000278407.4:n.107_113delinsGGTGTCC
ENST00000528996.2:c.507_513delinsGGTGTCC	ENSP00000431226.2:n.507_513delinsGGTGTCC
ENST00000531605.2:c.1386_1392delinsGGTGTCC	ENSP00000503752.1:n.1386_1392delinsGGTGTCC
ENST00000619430.2:c.107_113delinsGGTGTCC	ENSP00000478572.2:n.107_113delinsGGTGTCC
ENST00000676670.1:c.15+92_15+98delinsGGTGTCC	ENSP00000504807.1:n.15+92_15+98delinsGGTGTCC
ENST00000676741.1:n.2692_2698delinsGGTGTCC
ENST00000677624.1:c.1030_1036delinsGGTGTCC	ENSP00000503979.1:n.1030_1036delinsGGTGTCC
ENST00000677625.1:c.107_113delinsGGTGTCC	ENSP00000502857.1:n.107_113delinsGGTGTCC
ENST00000677856.1:n.1863_1869delinsGGTGTCC
ENST00000677915.1:c.507_513delinsGGTGTCC	ENSP00000503118.1:n.507_513delinsGGTGTCC
ENST00000678533.1:c.1072+92_1072+98delinsGGTGTCC	ENSP00000503873.1:n.1072+92_1072+98delinsGGTGTCC
ENST00000678592.1:c.550_556delinsGGTGTCC	ENSP00000504424.1:n.550_556delinsGGTGTCC
ENST00000278407.8:c.107_113delinsGGTGTCC	ENSP00000278407.4:n.107_113delinsGGTGTCC
ENST00000340687.10:c.107_113delinsGGTGTCC	ENSP00000341861.6:n.107_113delinsGGTGTCC
ENST00000378323.8:c.107_113delinsGGTGTCC	ENSP00000367574.4:n.107_113delinsGGTGTCC
ENST00000378324.6:c.107_113delinsGGTGTCC	ENSP00000367575.2:n.107_113delinsGGTGTCC
ENST00000403558.1:c.107_113delinsGGTGTCC	ENSP00000384420.1:n.107_113delinsGGTGTCC
ENST00000528996.1:c.811_817delinsGGTGTCC	ENSP00000431226.1:n.811_817delinsGGTGTCC
ENST00000531797.5:c.635_641delinsGGTGTCC	ENSP00000432554.1:n.635_641delinsGGTGTCC
NM_000062.2:c.107_113delinsGGTGTCC , LRG_105t1:c.107_113delinsGGTGTCC	NP_000053.2:n.107_113delinsGGTGTCC
NM_001032295.1:c.107_113delinsGGTGTCC	NP_001027466.1:n.107_113delinsGGTGTCC
NM_000062.3:c.107_113delinsGGTGTCC MANE Select	NP_000053.2:n.107_113delinsGGTGTCC
NM_001032295.2:c.107_113delinsGGTGTCC	NP_001027466.1:n.107_113delinsGGTGTCC

HGVS	Amino-acid Change
ENST00000278407.9:c.107_113delinsGGTGTCC MANE Select	ENSP00000278407.4:n.107_113delinsGGTGTCC
ENST00000528996.2:c.507_513delinsGGTGTCC	ENSP00000431226.2:n.507_513delinsGGTGTCC
ENST00000531605.2:c.1386_1392delinsGGTGTCC	ENSP00000503752.1:n.1386_1392delinsGGTGTCC
ENST00000619430.2:c.107_113delinsGGTGTCC	ENSP00000478572.2:n.107_113delinsGGTGTCC
ENST00000676670.1:c.15+92_15+98delinsGGTGTCC	ENSP00000504807.1:n.15+92_15+98delinsGGTGTCC
ENST00000676741.1:n.2692_2698delinsGGTGTCC
ENST00000677624.1:c.1030_1036delinsGGTGTCC	ENSP00000503979.1:n.1030_1036delinsGGTGTCC
ENST00000677625.1:c.107_113delinsGGTGTCC	ENSP00000502857.1:n.107_113delinsGGTGTCC
ENST00000677856.1:n.1863_1869delinsGGTGTCC
ENST00000677915.1:c.507_513delinsGGTGTCC	ENSP00000503118.1:n.507_513delinsGGTGTCC
ENST00000678533.1:c.1072+92_1072+98delinsGGTGTCC	ENSP00000503873.1:n.1072+92_1072+98delinsGGTGTCC
ENST00000678592.1:c.550_556delinsGGTGTCC	ENSP00000504424.1:n.550_556delinsGGTGTCC
ENST00000278407.8:c.107_113delinsGGTGTCC	ENSP00000278407.4:n.107_113delinsGGTGTCC
ENST00000340687.10:c.107_113delinsGGTGTCC	ENSP00000341861.6:n.107_113delinsGGTGTCC
ENST00000378323.8:c.107_113delinsGGTGTCC	ENSP00000367574.4:n.107_113delinsGGTGTCC
ENST00000378324.6:c.107_113delinsGGTGTCC	ENSP00000367575.2:n.107_113delinsGGTGTCC
ENST00000403558.1:c.107_113delinsGGTGTCC	ENSP00000384420.1:n.107_113delinsGGTGTCC
ENST00000528996.1:c.811_817delinsGGTGTCC	ENSP00000431226.1:n.811_817delinsGGTGTCC
ENST00000531797.5:c.635_641delinsGGTGTCC	ENSP00000432554.1:n.635_641delinsGGTGTCC
NM_000062.2:c.107_113delinsGGTGTCC , LRG_105t1:c.107_113delinsGGTGTCC	NP_000053.2:n.107_113delinsGGTGTCC
NM_001032295.1:c.107_113delinsGGTGTCC	NP_001027466.1:n.107_113delinsGGTGTCC
NM_000062.3:c.107_113delinsGGTGTCC MANE Select	NP_000053.2:n.107_113delinsGGTGTCC
NM_001032295.2:c.107_113delinsGGTGTCC	NP_001027466.1:n.107_113delinsGGTGTCC