Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60413817_60413819delinsCAA , CM000667.2:g.60413817_60413819delinsCAA	GRCh38
NC_000005.9:g.59709644_59709646delinsCAA , CM000667.1:g.59709644_59709646delinsCAA	GRCh37
NC_000005.8:g.59745401_59745403delinsCAA	NCBI36
NG_027957.1:g.79280_79282delinsTTG
NG_027957.2:g.115511_115513delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000502484.6:c.-90+74123_-90+74125delinsTTG	ENSP00000423094.2:n.-90+74123_-90+74125delinsTTG
ENST00000505507.6:c.-213+74123_-213+74125delinsTTG	ENSP00000425910.2:n.-213+74123_-213+74125delinsTTG
ENST00000506024.5:n.71+34818_71+34820delinsTTG
ENST00000506510.6:n.70+108232_70+108234delinsTTG
ENST00000509355.5:n.157+74123_157+74125delinsTTG
ENST00000511382.1:n.124+74123_124+74125delinsTTG
ENST00000515835.2:c.-213+74123_-213+74125delinsTTG	ENSP00000424281.2:n.-213+74123_-213+74125delinsTTG
NM_001165899.1:c.-90+74123_-90+74125delinsTTG	NP_001159371.1:n.-90+74123_-90+74125delinsTTG
XM_011543472.1:c.-90+108232_-90+108234delinsTTG	XP_011541774.1:n.-90+108232_-90+108234delinsTTG
XM_011543473.1:c.-90+34818_-90+34820delinsTTG	XP_011541775.1:n.-90+34818_-90+34820delinsTTG
NM_001349241.1:c.-193+74123_-193+74125delinsTTG	NP_001336170.1:n.-193+74123_-193+74125delinsTTG
NM_001349243.1:c.-674+74123_-674+74125delinsTTG	NP_001336172.1:n.-674+74123_-674+74125delinsTTG
NM_001364599.1:c.-90+82320_-90+82322delinsTTG	NP_001351528.1:n.-90+82320_-90+82322delinsTTG
XM_017009566.1:c.-139+74123_-139+74125delinsTTG	XP_016865055.1:n.-139+74123_-139+74125delinsTTG
XM_024446110.1:c.-90+108232_-90+108234delinsTTG	XP_024301878.1:n.-90+108232_-90+108234delinsTTG
XM_024446112.1:c.-90+108232_-90+108234delinsTTG	XP_024301880.1:n.-90+108232_-90+108234delinsTTG
NM_001165899.2:c.-90+74123_-90+74125delinsTTG	NP_001159371.1:n.-90+74123_-90+74125delinsTTG
NM_001349241.2:c.-193+74123_-193+74125delinsTTG	NP_001336170.1:n.-193+74123_-193+74125delinsTTG
NM_001349243.2:c.-674+74123_-674+74125delinsTTG	NP_001336172.1:n.-674+74123_-674+74125delinsTTG