Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668035_117668036insTATCT , CM000669.2:g.117668035_117668036insTATCT	GRCh38
NC_000007.13:g.117308089_117308090insTATCT , CM000669.1:g.117308089_117308090insTATCT	GRCh37
NC_000007.12:g.117095325_117095326insTATCT	NCBI36
NG_016465.4:g.207252_207253insTATCT , LRG_663:g.207252_207253insTATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1579_1580insTATCT	ENSP00000497673.2:n.1579_1580insTATCT
ENST00000647978.2:c.5084_5085insTATCT	ENSP00000497658.1:n.5084_5085insTATCT
ENST00000649781.2:c.927_928insTATCT	ENSP00000497203.1:n.927_928insTATCT
ENST00000685018.2:c.1583_1584insTATCT	ENSP00000510194.2:n.1583_1584insTATCT
ENST00000687278.2:c.1051+278_1051+279insTATCT	ENSP00000509593.2:n.1051+278_1051+279insTATCT
ENST00000699585.1:c.1839_1840insTATCT	ENSP00000514456.1:n.1839_1840insTATCT
ENST00000699598.1:c.454+278_454+279insTATCT	ENSP00000514467.1:n.454+278_454+279insTATCT
ENST00000699599.1:c.961+278_961+279insTATCT	ENSP00000514468.1:n.961+278_961+279insTATCT
ENST00000699600.1:c.1059+278_1059+279insTATCT	ENSP00000514469.1:n.1059+278_1059+279insTATCT
ENST00000699601.1:c.3745_3746insTATCT	ENSP00000514470.1:n.3745_3746insTATCT
ENST00000699602.1:c.927_928insTATCT	ENSP00000514471.1:n.927_928insTATCT
ENST00000699604.1:c.5194_5195insTATCT	ENSP00000514472.1:n.5194_5195insTATCT
ENST00000699605.1:c.927_928insTATCT	ENSP00000514473.1:n.927_928insTATCT
ENST00000699606.1:n.4881_4882insTATCT
ENST00000685018.1:c.2234_2235insTATCT	ENSP00000510194.1:n.2234_2235insTATCT
ENST00000687278.1:c.2185+278_2185+279insTATCT	ENSP00000509593.1:n.2185+278_2185+279insTATCT
ENST00000689011.1:c.2212_2213insTATCT
ENST00000003084.11:c.927_928insTATCT MANE Select	ENSP00000003084.6:n.927_928insTATCT
ENST00000647720.1:c.2820_2821insTATCT
ENST00000003084.10:c.927_928insTATCT	ENSP00000003084.6:n.927_928insTATCT
ENST00000600166.1:c.368+2471_368+2472insTATCT
NM_000492.3:c.927_928insTATCT , LRG_663t1:c.927_928insTATCT	NP_000483.3:n.927_928insTATCT
XM_011515751.1:c.927_928insTATCT	XP_011514053.1:n.927_928insTATCT
XM_011515753.1:c.927_928insTATCT	XP_011514055.1:n.927_928insTATCT
XM_011515754.1:c.927_928insTATCT	XP_011514056.1:n.927_928insTATCT
NM_000492.4:c.927_928insTATCT MANE Select	NP_000483.3:n.927_928insTATCT

HGVS	Amino-acid Change
ENST00000647720.2:c.1579_1580insTATCT	ENSP00000497673.2:n.1579_1580insTATCT
ENST00000647978.2:c.5084_5085insTATCT	ENSP00000497658.1:n.5084_5085insTATCT
ENST00000649781.2:c.927_928insTATCT	ENSP00000497203.1:n.927_928insTATCT
ENST00000685018.2:c.1583_1584insTATCT	ENSP00000510194.2:n.1583_1584insTATCT
ENST00000687278.2:c.1051+278_1051+279insTATCT	ENSP00000509593.2:n.1051+278_1051+279insTATCT
ENST00000699585.1:c.1839_1840insTATCT	ENSP00000514456.1:n.1839_1840insTATCT
ENST00000699598.1:c.454+278_454+279insTATCT	ENSP00000514467.1:n.454+278_454+279insTATCT
ENST00000699599.1:c.961+278_961+279insTATCT	ENSP00000514468.1:n.961+278_961+279insTATCT
ENST00000699600.1:c.1059+278_1059+279insTATCT	ENSP00000514469.1:n.1059+278_1059+279insTATCT
ENST00000699601.1:c.3745_3746insTATCT	ENSP00000514470.1:n.3745_3746insTATCT
ENST00000699602.1:c.927_928insTATCT	ENSP00000514471.1:n.927_928insTATCT
ENST00000699604.1:c.5194_5195insTATCT	ENSP00000514472.1:n.5194_5195insTATCT
ENST00000699605.1:c.927_928insTATCT	ENSP00000514473.1:n.927_928insTATCT
ENST00000699606.1:n.4881_4882insTATCT
ENST00000685018.1:c.2234_2235insTATCT	ENSP00000510194.1:n.2234_2235insTATCT
ENST00000687278.1:c.2185+278_2185+279insTATCT	ENSP00000509593.1:n.2185+278_2185+279insTATCT
ENST00000689011.1:c.2212_2213insTATCT
ENST00000003084.11:c.927_928insTATCT MANE Select	ENSP00000003084.6:n.927_928insTATCT
ENST00000647720.1:c.2820_2821insTATCT
ENST00000003084.10:c.927_928insTATCT	ENSP00000003084.6:n.927_928insTATCT
ENST00000600166.1:c.368+2471_368+2472insTATCT
NM_000492.3:c.927_928insTATCT , LRG_663t1:c.927_928insTATCT	NP_000483.3:n.927_928insTATCT
XM_011515751.1:c.927_928insTATCT	XP_011514053.1:n.927_928insTATCT
XM_011515753.1:c.927_928insTATCT	XP_011514055.1:n.927_928insTATCT
XM_011515754.1:c.927_928insTATCT	XP_011514056.1:n.927_928insTATCT
NM_000492.4:c.927_928insTATCT MANE Select	NP_000483.3:n.927_928insTATCT