Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255598_49255599insTGGGCCTCCGATATCGCAGATGCACTGGGGATTGAGGGGCTGCGTGCGCTGCCGACCGAGCCGTGGATCGTGACG , CM000685.2:g.49255598_49255599insTGGGCCTCCGATATCGCAGATGCACTGGGGATTGAGGGGCTGCGTGCGCTGCCGACCGAGCCGTGGATCGTGACG	GRCh38
NC_000023.10:g.49112059_49112060insTGGGCCTCCGATATCGCAGATGCACTGGGGATTGAGGGGCTGCGTGCGCTGCCGACCGAGCCGTGGATCGTGACG , CM000685.1:g.49112059_49112060insTGGGCCTCCGATATCGCAGATGCACTGGGGATTGAGGGGCTGCGTGCGCTGCCGACCGAGCCGTGGATCGTGACG	GRCh37
NC_000023.9:g.48999003_48999004insTGGGCCTCCGATATCGCAGATGCACTGGGGATTGAGGGGCTGCGTGCGCTGCCGACCGAGCCGTGGATCGTGACG	NCBI36
NG_007392.1:g.14229_14230insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA , LRG_62:g.14229_14230insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000365372.2:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000376207.10:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA MANE Select	ENSP00000365380.4:n.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000455775.7:c.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000396415.3:n.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000518685.6:c.735+116_735+117insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000428952.2:n.735+116_735+117insCGTCACGATCCACGGCTCGGTCG...
ENST00000557224.6:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000451208.1:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000651307.1:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000498454.1:n.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000376197.1:c.586-90_586-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000365369.1:n.586-90_586-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000376199.6:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000365372.2:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000376207.8:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000365380.4:n.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000455775.6:c.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000396415.3:n.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000518685.5:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000428952.1:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGC...
ENST00000557224.5:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	ENSP00000451208.1:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGC...
NM_001114377.1:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	NP_001107849.1:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
NM_014009.3:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA , LRG_62t1:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	NP_054728.2:n.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCA...
XM_006724533.2:c.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_006724596.2:n.805-90_805-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_011543915.1:c.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_011542217.1:n.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_011543916.1:c.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_011542218.1:n.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_011543917.1:c.754-90_754-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_011542219.1:n.754-90_754-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_011543918.1:c.991-90_991-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_011542220.1:n.991-90_991-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_011543919.1:c.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_011542221.1:n.955-90_955-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
XM_017029567.1:c.682-90_682-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	XP_016885056.1:n.682-90_682-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
NM_001114377.2:c.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA	NP_001107849.1:n.631-90_631-89insCGTCACGATCCACGGCTCGGTCGGCAGC...
NM_014009.4:c.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCACGCAGCCCCTCAATCCCCAGTGCATCTGCGATATCGGAGGCCCA MANE Select	NP_054728.2:n.736-90_736-89insCGTCACGATCCACGGCTCGGTCGGCAGCGCA...