Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222107_7222110delinsTCTC , CM000679.2:g.7222107_7222110delinsTCTC	GRCh38
NC_000017.10:g.7125426_7125429delinsTCTC , CM000679.1:g.7125426_7125429delinsTCTC	GRCh37
NC_000017.9:g.7066150_7066153delinsTCTC	NCBI36
NG_007975.1:g.7274_7277delinsTCTC
NG_008391.2:g.2941_2944delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.752+26_752+29delinsTCTC MANE Select	ENSP00000349297.5:n.752+26_752+29delinsTCTC
ENST00000322910.9:c.707+26_707+29delinsTCTC	ENSP00000325395.5:n.707+26_707+29delinsTCTC
ENST00000350303.9:c.686+26_686+29delinsTCTC	ENSP00000344152.5:n.686+26_686+29delinsTCTC
ENST00000356839.9:c.752+26_752+29delinsTCTC	ENSP00000349297.5:n.752+26_752+29delinsTCTC
ENST00000543245.6:c.821+26_821+29delinsTCTC	ENSP00000438689.2:n.821+26_821+29delinsTCTC
ENST00000577191.5:n.855_858delinsTCTC
ENST00000581378.5:c.470+26_470+29delinsTCTC
ENST00000582379.1:n.136+26_136+29delinsTCTC
ENST00000583760.1:n.560_563delinsTCTC
NM_000018.3:c.752+26_752+29delinsTCTC	NP_000009.1:n.752+26_752+29delinsTCTC
NM_001033859.2:c.686+26_686+29delinsTCTC	NP_001029031.1:n.686+26_686+29delinsTCTC
NM_001270447.1:c.821+26_821+29delinsTCTC	NP_001257376.1:n.821+26_821+29delinsTCTC
NM_001270448.1:c.524+26_524+29delinsTCTC	NP_001257377.1:n.524+26_524+29delinsTCTC
XM_006721516.2:c.752+26_752+29delinsTCTC	XP_006721579.2:n.752+26_752+29delinsTCTC
XM_011523829.1:c.752+26_752+29delinsTCTC	XP_011522131.1:n.752+26_752+29delinsTCTC
XM_011523830.1:c.752+26_752+29delinsTCTC	XP_011522132.1:n.752+26_752+29delinsTCTC
XR_934021.1:n.859+26_859+29delinsTCTC
XR_934022.1:n.859+26_859+29delinsTCTC
XR_934023.1:n.859+26_859+29delinsTCTC
XM_006721516.3:c.752+26_752+29delinsTCTC	XP_006721579.2:n.752+26_752+29delinsTCTC
XM_011523829.2:c.752+26_752+29delinsTCTC	XP_011522131.1:n.752+26_752+29delinsTCTC
XM_011523830.2:c.752+26_752+29delinsTCTC	XP_011522132.1:n.752+26_752+29delinsTCTC
XM_024450741.1:c.752+26_752+29delinsTCTC	XP_024306509.1:n.752+26_752+29delinsTCTC
XR_934021.2:n.811+26_811+29delinsTCTC
XR_934022.2:n.811+26_811+29delinsTCTC
XR_934023.2:n.811+26_811+29delinsTCTC
NM_000018.4:c.752+26_752+29delinsTCTC MANE Select	NP_000009.1:n.752+26_752+29delinsTCTC
NM_001033859.3:c.686+26_686+29delinsTCTC	NP_001029031.1:n.686+26_686+29delinsTCTC
NM_001270447.2:c.821+26_821+29delinsTCTC	NP_001257376.1:n.821+26_821+29delinsTCTC
NM_001270448.2:c.524+26_524+29delinsTCTC	NP_001257377.1:n.524+26_524+29delinsTCTC