Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475082_47475142delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA , CM000664.2:g.47475082_47475142delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	GRCh38
NC_000002.11:g.47702221_47702281delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA , CM000664.1:g.47702221_47702281delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	GRCh37
NC_000002.10:g.47555725_47555785delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	NCBI36
NG_007110.2:g.76959_77019delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA , LRG_218:g.76959_77019delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000495641.2:p.Val606=
ENST00000233146.7:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA MANE Select	ENSP00000233146.2:p.Val606=
ENST00000543555.6:c.1619_1679delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000442697.1:p.Val540=
ENST00000644092.1:c.117_177delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000496351.1:n.117_177delinsTCAGCTTTGCTCACGTGTCAAATGGA...
ENST00000645339.1:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000496441.1:p.Val606=
ENST00000645506.1:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000495455.1:p.Val606=
ENST00000646415.1:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000495543.1:p.Val606=
ENST00000233146.6:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000233146.2:p.Val606=
ENST00000406134.5:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000384199.1:p.Val606=
ENST00000543555.5:c.1619_1679delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000442697.1:p.Val540=
ENST00000610696.4:c.213_273delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000483159.1:n.213_273delinsTCAGCTTTGCTCACGTGTCAAATGGA...
ENST00000613514.4:c.357_417delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000484137.1:n.357_417delinsTCAGCTTTGCTCACGTGTCAAATGGA...
ENST00000617333.3:c.583_643delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000482468.1:n.583_643delinsTCAGCTTTGCTCACGTGTCAAATGGA...
ENST00000617938.4:c.789_849delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000481158.1:n.789_849delinsTCAGCTTTGCTCACGTGTCAAATGGA...
ENST00000621359.2:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	ENSP00000481416.1:p.Val606=
NM_000251.2:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA , LRG_218t1:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	NP_000242.1:p.Val606=
NM_001258281.1:c.1619_1679delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	NP_001245210.1:p.Val540=
XM_005264332.2:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	XP_005264389.2:p.Val606=
XM_011532867.1:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	XP_011531169.1:p.Val606=
XR_939685.1:n.1889_1949delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA
XM_005264332.4:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	XP_005264389.2:p.Val606=
XM_011532867.2:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA	XP_011531169.1:p.Val606=
XR_001738747.2:n.1879_1939delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA
XR_939685.2:n.1879_1939delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA
NM_000251.3:c.1817_1877delinsTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGA MANE Select	NP_000242.1:p.Val606=