Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224551_7224555delinsCAGTA , CM000679.2:g.7224551_7224555delinsCAGTA	GRCh38
NC_000017.10:g.7127870_7127874delinsCAGTA , CM000679.1:g.7127870_7127874delinsCAGTA	GRCh37
NC_000017.9:g.7068594_7068598delinsCAGTA	NCBI36
NG_007975.1:g.9718_9722delinsCAGTA
NG_008391.2:g.496_500delinsTACTG
NG_033038.1:g.14990_14994delinsTACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1677_1678+3delinsCAGTA
ENST00000322910.9:c.1632_1633+3delinsCAGTA
ENST00000350303.9:c.1611_1612+3delinsCAGTA
ENST00000356839.9:c.1677_1678+3delinsCAGTA
ENST00000542255.6:c.535_536+3delinsCAGTA
ENST00000543245.6:c.1746_1747+3delinsCAGTA
ENST00000578319.5:n.258_259+3delinsCAGTA
ENST00000578711.1:n.1047_1051delinsCAGTA
ENST00000578809.5:n.249_250+3delinsCAGTA
ENST00000579391.1:n.281_285delinsCAGTA
ENST00000579425.5:n.793_794+3delinsCAGTA
ENST00000579546.1:c.412_413+3delinsCAGTA
ENST00000582450.1:n.185_189delinsCAGTA
ENST00000583074.5:n.298_299+3delinsCAGTA
ENST00000583848.5:c.63_64+3delinsCAGTA
ENST00000583850.5:n.448_449+3delinsCAGTA
ENST00000583858.5:c.608_609+3delinsCAGTA
ENST00000585203.6:n.868_869+3delinsCAGTA
NM_000018.3:c.1677_1678+3delinsCAGTA
NM_001033859.2:c.1611_1612+3delinsCAGTA
NM_001270447.1:c.1746_1747+3delinsCAGTA
NM_001270448.1:c.1449_1450+3delinsCAGTA
XM_006721516.2:c.1677_1678+3delinsCAGTA
XM_011523829.1:c.1575_1576+3delinsCAGTA
XM_011523830.1:c.1575_1576+3delinsCAGTA
XR_934021.1:n.1780_1781+3delinsCAGTA
XR_934022.1:n.1686_1687+3delinsCAGTA
XR_934023.1:n.1686_1687+3delinsCAGTA
XM_006721516.3:c.1677_1678+3delinsCAGTA
XM_011523829.2:c.1575_1576+3delinsCAGTA
XM_011523830.2:c.1575_1576+3delinsCAGTA
XM_024450741.1:c.1665_1666+3delinsCAGTA
XR_934021.2:n.1732_1733+3delinsCAGTA
XR_934022.2:n.1638_1639+3delinsCAGTA
XR_934023.2:n.1638_1639+3delinsCAGTA
NM_000018.4:c.1677_1678+3delinsCAGTA
NM_001033859.3:c.1611_1612+3delinsCAGTA
NM_001270447.2:c.1746_1747+3delinsCAGTA
NM_001270448.2:c.1449_1450+3delinsCAGTA