Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910954_99910956delinsCAA , CM000663.2:g.99910954_99910956delinsCAA	GRCh38
NC_000001.10:g.100376510_100376512delinsCAA , CM000663.1:g.100376510_100376512delinsCAA	GRCh37
NC_000001.9:g.100149098_100149100delinsCAA	NCBI36
NG_012865.1:g.65871_65873delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3836+107_3836+109delinsCAA MANE Select	ENSP00000355106.3:n.3836+107_3836+109delinsCAA
ENST00000637337.1:n.4047+107_4047+109delinsCAA
ENST00000294724.8:c.3836+107_3836+109delinsCAA	ENSP00000294724.4:n.3836+107_3836+109delinsCAA
ENST00000361302.7:c.3788+107_3788+109delinsCAA	ENSP00000354971.3:n.3788+107_3788+109delinsCAA
ENST00000361522.4:c.3785+107_3785+109delinsCAA	ENSP00000354635.4:n.3785+107_3785+109delinsCAA
ENST00000361915.7:c.3836+107_3836+109delinsCAA	ENSP00000355106.3:n.3836+107_3836+109delinsCAA
ENST00000370161.6:c.3788+107_3788+109delinsCAA	ENSP00000359180.2:n.3788+107_3788+109delinsCAA
ENST00000370163.7:c.3836+107_3836+109delinsCAA	ENSP00000359182.3:n.3836+107_3836+109delinsCAA
ENST00000370165.7:c.3836+107_3836+109delinsCAA	ENSP00000359184.3:n.3836+107_3836+109delinsCAA
NM_000028.2:c.3836+107_3836+109delinsCAA	NP_000019.2:n.3836+107_3836+109delinsCAA
NM_000642.2:c.3836+107_3836+109delinsCAA	NP_000633.2:n.3836+107_3836+109delinsCAA
NM_000643.2:c.3836+107_3836+109delinsCAA	NP_000634.2:n.3836+107_3836+109delinsCAA
NM_000644.2:c.3836+107_3836+109delinsCAA	NP_000635.2:n.3836+107_3836+109delinsCAA
NM_000645.2:c.3785+107_3785+109delinsCAA	NP_000636.2:n.3785+107_3785+109delinsCAA
NM_000646.2:c.3788+107_3788+109delinsCAA	NP_000637.2:n.3788+107_3788+109delinsCAA
XM_005270557.1:c.3836+107_3836+109delinsCAA	XP_005270614.1:n.3836+107_3836+109delinsCAA
XM_005270557.2:c.3836+107_3836+109delinsCAA	XP_005270614.1:n.3836+107_3836+109delinsCAA
XM_017000501.2:c.2096+107_2096+109delinsCAA	XP_016855990.1:n.2096+107_2096+109delinsCAA
NM_000642.3:c.3836+107_3836+109delinsCAA MANE Select	NP_000633.2:n.3836+107_3836+109delinsCAA