Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363646_40363647del , CM000674.2:g.40363646_40363647del	GRCh38
NC_000012.11:g.40757448_40757449del , CM000674.1:g.40757448_40757449del	GRCh37
NC_000012.10:g.39043715_39043716del	NCBI36
NG_011709.1:g.143636_143637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7181+92_7181+93del MANE Select	ENSP00000298910.7:n.7181+92_7181+93del
ENST00000636518.1:c.978+92_978+93del
ENST00000679360.1:c.6090+92_6090+93del	ENSP00000505368.1:n.6090+92_6090+93del
ENST00000679532.1:c.2955+92_2955+93del
ENST00000679683.1:c.971+92_971+93del
ENST00000680018.1:c.2626+92_2626+93del	ENSP00000505347.1:n.2626+92_2626+93del
ENST00000680422.1:c.4268+92_4268+93del
ENST00000680425.1:c.2348+92_2348+93del	ENSP00000506459.1:n.2348+92_2348+93del
ENST00000680453.1:c.2638+92_2638+93del
ENST00000680790.1:c.6926+92_6926+93del	ENSP00000505335.1:n.6926+92_6926+93del
ENST00000681136.1:n.3165+92_3165+93del
ENST00000681696.1:c.2864+92_2864+93del	ENSP00000505871.1:n.2864+92_2864+93del
ENST00000681773.1:n.388+92_388+93del
ENST00000298910.11:c.7181+92_7181+93del	ENSP00000298910.7:n.7181+92_7181+93del
ENST00000430804.5:c.4477+92_4477+93del
ENST00000479187.5:n.3862+92_3862+93del
NM_198578.3:c.7181+92_7181+93del	NP_940980.3:n.7181+92_7181+93del
XM_005268629.2:c.7181+92_7181+93del	XP_005268686.1:n.7181+92_7181+93del
XM_011537877.1:c.7181+92_7181+93del	XP_011536179.1:n.7181+92_7181+93del
XM_011537879.1:c.5978+92_5978+93del	XP_011536181.1:n.5978+92_5978+93del
XR_944868.1:n.485-8820_485-8819del
XM_005268629.4:c.7181+92_7181+93del	XP_005268686.1:n.7181+92_7181+93del
XM_011537877.3:c.7181+92_7181+93del	XP_011536179.1:n.7181+92_7181+93del
XM_017018787.1:c.4097+92_4097+93del	XP_016874276.1:n.4097+92_4097+93del
XM_017018788.2:c.3443+92_3443+93del	XP_016874277.1:n.3443+92_3443+93del
XM_024448833.1:c.5978+92_5978+93del	XP_024304601.1:n.5978+92_5978+93del
XR_944868.2:n.485-8820_485-8819del
NM_198578.4:c.7181+92_7181+93del MANE Select	NP_940980.4:n.7181+92_7181+93del