Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222710_7222718delinsTCAAAGCAC , CM000679.2:g.7222710_7222718delinsTCAAAGCAC	GRCh38
NC_000017.10:g.7126029_7126037delinsTCAAAGCAC , CM000679.1:g.7126029_7126037delinsTCAAAGCAC	GRCh37
NC_000017.9:g.7066753_7066761delinsTCAAAGCAC	NCBI36
NG_007975.1:g.7877_7885delinsTCAAAGCAC
NG_008391.2:g.2333_2341delinsGTGCTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.922_930delinsTCAAAGCAC MANE Select	ENSP00000349297.5:p.Ala308_Val310delinsSerLysHis
ENST00000322910.9:c.877_885delinsTCAAAGCAC	ENSP00000325395.5:n.877_885delinsTCAAAGCAC
ENST00000350303.9:c.856_864delinsTCAAAGCAC	ENSP00000344152.5:p.Ala286_Val288delinsSerLysHis
ENST00000356839.9:c.922_930delinsTCAAAGCAC	ENSP00000349297.5:p.Ala308_Val310delinsSerLysHis
ENST00000543245.6:c.991_999delinsTCAAAGCAC	ENSP00000438689.2:p.Ala331_Val333delinsSerLysHis
ENST00000578824.5:n.71_79delinsTCAAAGCAC
ENST00000581378.5:c.640_648delinsTCAAAGCAC
ENST00000582379.1:n.306_314delinsTCAAAGCAC
NM_000018.3:c.922_930delinsTCAAAGCAC	NP_000009.1:p.Ala308_Val310delinsSerLysHis
NM_001033859.2:c.856_864delinsTCAAAGCAC	NP_001029031.1:p.Ala286_Val288delinsSerLysHis
NM_001270447.1:c.991_999delinsTCAAAGCAC	NP_001257376.1:p.Ala331_Val333delinsSerLysHis
NM_001270448.1:c.694_702delinsTCAAAGCAC	NP_001257377.1:p.Ala232_Val234delinsSerLysHis
XM_006721516.2:c.922_930delinsTCAAAGCAC	XP_006721579.2:p.Ala308_Val310delinsSerLysHis
XM_011523829.1:c.922_930delinsTCAAAGCAC	XP_011522131.1:p.Ala308_Val310delinsSerLysHis
XM_011523830.1:c.922_930delinsTCAAAGCAC	XP_011522132.1:p.Ala308_Val310delinsSerLysHis
XR_934021.1:n.1029_1037delinsTCAAAGCAC
XR_934022.1:n.1029_1037delinsTCAAAGCAC
XR_934023.1:n.1029_1037delinsTCAAAGCAC
XM_006721516.3:c.922_930delinsTCAAAGCAC	XP_006721579.2:p.Ala308_Val310delinsSerLysHis
XM_011523829.2:c.922_930delinsTCAAAGCAC	XP_011522131.1:p.Ala308_Val310delinsSerLysHis
XM_011523830.2:c.922_930delinsTCAAAGCAC	XP_011522132.1:p.Ala308_Val310delinsSerLysHis
XM_024450741.1:c.922_930delinsTCAAAGCAC	XP_024306509.1:p.Ala308_Val310delinsSerLysHis
XR_934021.2:n.981_989delinsTCAAAGCAC
XR_934022.2:n.981_989delinsTCAAAGCAC
XR_934023.2:n.981_989delinsTCAAAGCAC
NM_000018.4:c.922_930delinsTCAAAGCAC MANE Select	NP_000009.1:p.Ala308_Val310delinsSerLysHis
NM_001033859.3:c.856_864delinsTCAAAGCAC	NP_001029031.1:p.Ala286_Val288delinsSerLysHis
NM_001270447.2:c.991_999delinsTCAAAGCAC	NP_001257376.1:p.Ala331_Val333delinsSerLysHis
NM_001270448.2:c.694_702delinsTCAAAGCAC	NP_001257377.1:p.Ala232_Val234delinsSerLysHis