Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647213_88647254delinsTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGA , CM000678.2:g.88647213_88647254delinsTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGA	GRCh38
NC_000016.9:g.88713621_88713662delinsTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGA , CM000678.1:g.88713621_88713662delinsTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGA	GRCh37
NC_000016.8:g.87241122_87241163delinsTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGA	NCBI36
NG_007291.1:g.8796_8837delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA , LRG_52:g.8796_8837delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000455537.2:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696156.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512446.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696157.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512447.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696158.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512448.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696159.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512449.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696160.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512450.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696161.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512451.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696162.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512452.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000696163.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000512453.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000261623.8:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA MANE Select	ENSP00000261623.3:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000261623.7:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000261623.3:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000562209.1:n.147-79_147-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA
ENST00000563526.5:n.104-79_104-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA
ENST00000566229.1:c.118-79_118-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000457060.1:n.118-79_118-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000566534.5:n.151-79_151-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA
ENST00000567174.5:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000454951.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000568278.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000455506.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
ENST00000569359.5:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	ENSP00000456079.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGG...
NM_000101.3:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	NP_000092.2:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTC...
XM_011522905.1:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	XP_011521207.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAG...
XM_011522905.3:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA	XP_011521207.1:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAG...
NM_000101.4:c.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTCCCTGTGGCCCCTCA MANE Select	NP_000092.2:n.129-79_129-38delinsTCTGTGTTGTCTTCAGTAAAGGGAGTTC...