Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946868_47946869insCAAACCAAACACAC , CM000679.2:g.47946868_47946869insCAAACCAAACACAC	GRCh38
NC_000017.10:g.46024234_46024235insCAAACCAAACACAC , CM000679.1:g.46024234_46024235insCAAACCAAACACAC	GRCh37
NC_000017.9:g.43379233_43379234insCAAACCAAACACAC	NCBI36
NG_008744.1:g.10346_10347insCAAACCAAACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.86_87insCAAACCAAACACAC	ENSP00000225573.5:n.86_87insCAAACCAAACACAC
ENST00000434554.7:c.86_87insCAAACCAAACACAC	ENSP00000399960.3:n.86_87insCAAACCAAACACAC
ENST00000582171.6:c.537_538insCAAACCAAACACAC	ENSP00000463994.1:n.537_538insCAAACCAAACACAC
ENST00000584806.2:n.541_542insCAAACCAAACACAC
ENST00000641305.1:n.2371_2372insCAAACCAAACACAC
ENST00000641323.1:c.891_892insCAAACCAAACACAC	ENSP00000492965.1:n.891_892insCAAACCAAACACAC
ENST00000641427.1:n.872_873insCAAACCAAACACAC
ENST00000641703.1:c.588_589insCAAACCAAACACAC	ENSP00000493219.1:n.588_589insCAAACCAAACACAC
ENST00000641709.1:c.694_695insCAAACCAAACACAC	ENSP00000493349.1:n.694_695insCAAACCAAACACAC
ENST00000641856.1:c.1380_1381insCAAACCAAACACAC	ENSP00000493224.1:n.1380_1381insCAAACCAAACACAC
ENST00000642017.2:c.86_87insCAAACCAAACACAC MANE Select	ENSP00000493302.2:n.86_87insCAAACCAAACACAC
ENST00000225573.4:c.86_87insCAAACCAAACACAC	ENSP00000225573.4:n.86_87insCAAACCAAACACAC
ENST00000434554.6:c.86_87insCAAACCAAACACAC	ENSP00000399960.2:n.86_87insCAAACCAAACACAC
ENST00000582171.5:c.537_538insCAAACCAAACACAC	ENSP00000463994.1:n.537_538insCAAACCAAACACAC
ENST00000584806.1:n.541_542insCAAACCAAACACAC
NM_018129.3:c.86_87insCAAACCAAACACAC	NP_060599.1:n.86_87insCAAACCAAACACAC
XM_005257500.2:c.86_87insCAAACCAAACACAC	XP_005257557.1:n.86_87insCAAACCAAACACAC
XM_011524968.1:c.86_87insCAAACCAAACACAC	XP_011523270.1:n.86_87insCAAACCAAACACAC
XM_005257500.3:c.86_87insCAAACCAAACACAC	XP_005257557.1:n.86_87insCAAACCAAACACAC
XM_011524968.2:c.86_87insCAAACCAAACACAC	XP_011523270.1:n.86_87insCAAACCAAACACAC
XM_017024813.1:c.86_87insCAAACCAAACACAC	XP_016880302.1:n.86_87insCAAACCAAACACAC
NM_018129.4:c.86_87insCAAACCAAACACAC MANE Select	NP_060599.1:n.86_87insCAAACCAAACACAC

HGVS	Amino-acid Change
ENST00000225573.5:c.86_87insCAAACCAAACACAC	ENSP00000225573.5:n.86_87insCAAACCAAACACAC
ENST00000434554.7:c.86_87insCAAACCAAACACAC	ENSP00000399960.3:n.86_87insCAAACCAAACACAC
ENST00000582171.6:c.537_538insCAAACCAAACACAC	ENSP00000463994.1:n.537_538insCAAACCAAACACAC
ENST00000584806.2:n.541_542insCAAACCAAACACAC
ENST00000641305.1:n.2371_2372insCAAACCAAACACAC
ENST00000641323.1:c.891_892insCAAACCAAACACAC	ENSP00000492965.1:n.891_892insCAAACCAAACACAC
ENST00000641427.1:n.872_873insCAAACCAAACACAC
ENST00000641703.1:c.588_589insCAAACCAAACACAC	ENSP00000493219.1:n.588_589insCAAACCAAACACAC
ENST00000641709.1:c.694_695insCAAACCAAACACAC	ENSP00000493349.1:n.694_695insCAAACCAAACACAC
ENST00000641856.1:c.1380_1381insCAAACCAAACACAC	ENSP00000493224.1:n.1380_1381insCAAACCAAACACAC
ENST00000642017.2:c.86_87insCAAACCAAACACAC MANE Select	ENSP00000493302.2:n.86_87insCAAACCAAACACAC
ENST00000225573.4:c.86_87insCAAACCAAACACAC	ENSP00000225573.4:n.86_87insCAAACCAAACACAC
ENST00000434554.6:c.86_87insCAAACCAAACACAC	ENSP00000399960.2:n.86_87insCAAACCAAACACAC
ENST00000582171.5:c.537_538insCAAACCAAACACAC	ENSP00000463994.1:n.537_538insCAAACCAAACACAC
ENST00000584806.1:n.541_542insCAAACCAAACACAC
NM_018129.3:c.86_87insCAAACCAAACACAC	NP_060599.1:n.86_87insCAAACCAAACACAC
XM_005257500.2:c.86_87insCAAACCAAACACAC	XP_005257557.1:n.86_87insCAAACCAAACACAC
XM_011524968.1:c.86_87insCAAACCAAACACAC	XP_011523270.1:n.86_87insCAAACCAAACACAC
XM_005257500.3:c.86_87insCAAACCAAACACAC	XP_005257557.1:n.86_87insCAAACCAAACACAC
XM_011524968.2:c.86_87insCAAACCAAACACAC	XP_011523270.1:n.86_87insCAAACCAAACACAC
XM_017024813.1:c.86_87insCAAACCAAACACAC	XP_016880302.1:n.86_87insCAAACCAAACACAC
NM_018129.4:c.86_87insCAAACCAAACACAC MANE Select	NP_060599.1:n.86_87insCAAACCAAACACAC