Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169805_16169806insAGAGGCAGA , CM000678.2:g.16169805_16169806insAGAGGCAGA	GRCh38
NC_000016.9:g.16263662_16263663insAGAGGCAGA , CM000678.1:g.16263662_16263663insAGAGGCAGA	GRCh37
NC_000016.8:g.16171163_16171164insAGAGGCAGA	NCBI36
NG_007558.2:g.58666_58667insTCTGCCTCT
NG_007558.3:g.58812_58813insTCTGCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2835_2836insTCTGCCTCT	ENSP00000483331.2:p.Pro945_Leu946insSerAlaSer
ENST00000205557.12:c.2835_2836insTCTGCCTCT MANE Select	ENSP00000205557.7:p.Pro945_Leu946insSerAlaSer
ENST00000205557.11:c.2835_2836insTCTGCCTCT	ENSP00000205557.7:p.Pro945_Leu946insSerAlaSer
ENST00000456970.6:c.2660_2661insTCTGCCTCT	ENSP00000405002.2:n.2660_2661insTCTGCCTCT
ENST00000622290.4:c.44_45insTCTGCCTCT	ENSP00000483331.1:n.44_45insTCTGCCTCT
NM_001171.5:c.2835_2836insTCTGCCTCT	NP_001162.4:p.Pro945_Leu946insSerAlaSer
XM_011522479.1:c.2802_2803insTCTGCCTCT	XP_011520781.1:p.Pro934_Leu935insSerAlaSer
XM_011522480.1:c.2493_2494insTCTGCCTCT	XP_011520782.1:p.Pro831_Leu832insSerAlaSer
XM_011522481.1:c.2493_2494insTCTGCCTCT	XP_011520783.1:p.Pro831_Leu832insSerAlaSer
XR_932836.1:n.3070_3071insTCTGCCTCT
XR_932837.1:n.3071_3072insTCTGCCTCT
XR_932838.1:n.3071_3072insTCTGCCTCT
NM_001351800.1:c.2493_2494insTCTGCCTCT	NP_001338729.1:p.Pro831_Leu832insSerAlaSer
NR_147784.1:n.2697_2698insTCTGCCTCT
XM_011522479.2:c.2802_2803insTCTGCCTCT	XP_011520781.1:p.Pro934_Leu935insSerAlaSer
XM_011522481.3:c.2493_2494insTCTGCCTCT	XP_011520783.1:p.Pro831_Leu832insSerAlaSer
XM_017023212.1:c.2667_2668insTCTGCCTCT	XP_016878701.1:p.Pro889_Leu890insSerAlaSer
XM_017023214.1:c.2835_2836insTCTGCCTCT	XP_016878703.1:p.Pro945_Leu946insSerAlaSer
XM_024450261.1:c.2871_2872insTCTGCCTCT	XP_024306029.1:p.Pro957_Leu958insSerAlaSer
XR_932836.2:n.3016_3017insTCTGCCTCT
XR_932837.3:n.3016_3017insTCTGCCTCT
XR_932838.3:n.3016_3017insTCTGCCTCT
NM_001171.6:c.2835_2836insTCTGCCTCT MANE Select	NP_001162.5:p.Pro945_Leu946insSerAlaSer