Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333796_6333797delinsTT , CM000674.2:g.6333796_6333797delinsTT	GRCh38
NC_000012.11:g.6442962_6442963delinsTT , CM000674.1:g.6442962_6442963delinsTT	GRCh37
NC_000012.10:g.6313223_6313224delinsTT	NCBI36
NG_007506.1:g.13299_13300delinsAA , LRG_193:g.13299_13300delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.296_297delinsAA
ENST00000437813.8:c.262_263delinsAA	ENSP00000513672.1:p.Ser88Asn
ENST00000440083.7:c.262_263delinsAA	ENSP00000413224.3:p.Ser88Asn
ENST00000535958.2:c.89_90delinsAA	ENSP00000513673.1:n.89_90delinsAA
ENST00000698339.1:c.262_263delinsAA	ENSP00000513670.1:p.Ser88Asn
ENST00000698340.1:c.262_263delinsAA	ENSP00000513671.1:p.Ser88Asn
ENST00000162749.7:c.262_263delinsAA MANE Select	ENSP00000162749.2:p.Ser88Asn
ENST00000162749.6:c.262_263delinsAA	ENSP00000162749.2:p.Ser88Asn
ENST00000366159.8:c.262_263delinsAA	ENSP00000380389.3:p.Ser88Asn
ENST00000437813.7:n.223_224delinsAA
ENST00000440083.6:c.262_263delinsAA	ENSP00000413224.2:p.Ser88Asn
ENST00000534885.5:c.108_109delinsAA	ENSP00000441803.1:p.Pro37Thr
ENST00000535958.1:n.508_509delinsAA
ENST00000536194.1:c.235_236delinsAA	ENSP00000442919.1:p.Ser79Asn
ENST00000539372.5:c.262_263delinsAA	ENSP00000442059.1:p.Ser88Asn
ENST00000540022.5:c.194-281_194-280delinsAA	ENSP00000438343.1:n.194-281_194-280delinsAA
ENST00000543048.5:c.214+48_214+49delinsAA	ENSP00000439981.1:n.214+48_214+49delinsAA
ENST00000543995.5:c.193+294_193+295delinsAA	ENSP00000442405.1:n.193+294_193+295delinsAA
NM_001065.3:c.262_263delinsAA , LRG_193t1:c.262_263delinsAA	NP_001056.1:p.Ser88Asn
NM_001346091.1:c.-63_-62delinsAA	NP_001333020.1:n.-63_-62delinsAA
NM_001346092.1:c.-316_-315delinsAA	NP_001333021.1:n.-316_-315delinsAA
NR_144351.1:n.565_566delinsAA
NM_001065.4:c.262_263delinsAA MANE Select	NP_001056.1:p.Ser88Asn
NM_001346091.2:c.-63_-62delinsAA	NP_001333020.1:n.-63_-62delinsAA
NM_001346092.2:c.-316_-315delinsAA	NP_001333021.1:n.-316_-315delinsAA
NR_144351.2:n.524_525delinsAA