Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.7345933_7345934delinsTG , CM000673.2:g.7345933_7345934delinsTG	GRCh38
NC_000011.9:g.7367164_7367165delinsTG , CM000673.1:g.7367164_7367165delinsTG	GRCh37
NC_000011.8:g.7323740_7323741delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318881.11:c.1044+31992_1044+31993delinsTG MANE Select	ENSP00000324419.6:n.1044+31992_1044+31993delinsTG
ENST00000318881.10:c.1044+31992_1044+31993delinsTG	ENSP00000324419.6:n.1044+31992_1044+31993delinsTG
ENST00000524820.6:c.141+31596_141+31597delinsTG	ENSP00000432141.2:n.141+31596_141+31597delinsTG
ENST00000532592.1:c.497+42543_497+42544delinsTG	ENSP00000434558.1:n.497+42543_497+42544delinsTG
NM_175733.3:c.1044+31992_1044+31993delinsTG	NP_783860.1:n.1044+31992_1044+31993delinsTG
XM_005252795.2:c.1044+31992_1044+31993delinsTG	XP_005252852.1:n.1044+31992_1044+31993delinsTG
XM_011519900.1:c.1044+31992_1044+31993delinsTG	XP_011518202.1:n.1044+31992_1044+31993delinsTG
XM_011519901.1:c.1044+31992_1044+31993delinsTG	XP_011518203.1:n.1044+31992_1044+31993delinsTG
XM_011519902.1:c.948+31992_948+31993delinsTG	XP_011518204.1:n.948+31992_948+31993delinsTG
XM_011519903.1:c.1044+31992_1044+31993delinsTG	XP_011518205.1:n.1044+31992_1044+31993delinsTG
XM_011519904.1:c.1044+31992_1044+31993delinsTG	XP_011518206.1:n.1044+31992_1044+31993delinsTG
XM_011519905.1:c.1044+31992_1044+31993delinsTG	XP_011518207.1:n.1044+31992_1044+31993delinsTG
XM_011519900.2:c.1044+31992_1044+31993delinsTG	XP_011518202.1:n.1044+31992_1044+31993delinsTG
XM_011519901.2:c.1044+31992_1044+31993delinsTG	XP_011518203.1:n.1044+31992_1044+31993delinsTG
XM_011519902.2:c.948+31992_948+31993delinsTG	XP_011518204.1:n.948+31992_948+31993delinsTG
XM_011519904.2:c.1044+31992_1044+31993delinsTG	XP_011518206.1:n.1044+31992_1044+31993delinsTG
XR_001747772.1:n.1259+31992_1259+31993delinsTG
XR_001747773.1:n.1259+31992_1259+31993delinsTG
NM_175733.4:c.1044+31992_1044+31993delinsTG MANE Select	NP_783860.1:n.1044+31992_1044+31993delinsTG