Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408247_2408248delinsTC , CM000663.2:g.2408247_2408248delinsTC	GRCh38
NC_000001.10:g.2339686_2339687delinsTC , CM000663.1:g.2339686_2339687delinsTC	GRCh37
NC_000001.9:g.2329546_2329547delinsTC	NCBI36
NG_008342.1:g.9324_9325delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+204_600+205delinsGA	ENSP00000288774.3:n.600+204_600+205delinsGA
ENST00000447513.7:c.600+204_600+205delinsGA MANE Select	ENSP00000407922.2:n.600+204_600+205delinsGA
ENST00000650293.1:c.554+204_554+205delinsGA
ENST00000288774.7:c.600+204_600+205delinsGA	ENSP00000288774.3:n.600+204_600+205delinsGA
ENST00000447513.6:c.600+204_600+205delinsGA	ENSP00000407922.2:n.600+204_600+205delinsGA
ENST00000507596.5:c.600+204_600+205delinsGA	ENSP00000424291.1:n.600+204_600+205delinsGA
ENST00000510434.1:c.596+208_596+209delinsGA	ENSP00000423051.1:n.596+208_596+209delinsGA
NM_002617.3:c.600+204_600+205delinsGA	NP_002608.1:n.600+204_600+205delinsGA
NM_153818.1:c.600+204_600+205delinsGA	NP_722540.1:n.600+204_600+205delinsGA
XM_011541573.1:c.600+204_600+205delinsGA	XP_011539875.1:n.600+204_600+205delinsGA
XM_011541574.1:c.168+204_168+205delinsGA	XP_011539876.1:n.168+204_168+205delinsGA
XM_011541575.1:c.168+204_168+205delinsGA	XP_011539877.1:n.168+204_168+205delinsGA
XM_011541576.1:c.596+208_596+209delinsGA	XP_011539878.1:n.596+208_596+209delinsGA
XR_946666.1:n.716+208_716+209delinsGA
XM_011541576.2:c.596+208_596+209delinsGA	XP_011539878.1:n.596+208_596+209delinsGA
XR_946666.2:n.665+208_665+209delinsGA
NM_001374425.1:c.600+204_600+205delinsGA	NP_001361354.1:n.600+204_600+205delinsGA
NM_001374426.1:c.168+204_168+205delinsGA	NP_001361355.1:n.168+204_168+205delinsGA
NM_001374427.1:c.168+204_168+205delinsGA	NP_001361356.1:n.168+204_168+205delinsGA
NM_002617.4:c.600+204_600+205delinsGA MANE Select	NP_002608.1:n.600+204_600+205delinsGA
NM_153818.2:c.600+204_600+205delinsGA	NP_722540.1:n.600+204_600+205delinsGA
NR_164636.1:n.715+208_715+209delinsGA