Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220377del , CM000679.2:g.7220377del	GRCh38
NC_000017.10:g.7123696del , CM000679.1:g.7123696del	GRCh37
NC_000017.9:g.7064420del	NCBI36
NG_007975.1:g.5544del
NG_008391.2:g.4674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.139-87del MANE Select	ENSP00000349297.5:n.139-87del
ENST00000322910.9:c.*94-87del	ENSP00000325395.5:n.*94-87del
ENST00000350303.9:c.138+180del	ENSP00000344152.5:n.138+180del
ENST00000356839.9:c.139-87del	ENSP00000349297.5:n.139-87del
ENST00000543245.6:c.208-87del	ENSP00000438689.2:n.208-87del
ENST00000577191.5:n.216-87del
ENST00000577433.5:n.186del
ENST00000577857.5:n.228+180del
ENST00000578269.5:n.425del
ENST00000578421.1:n.273-87del
ENST00000579286.5:n.246-87del
ENST00000579886.2:c.139-87del	ENSP00000463246.1:n.139-87del
ENST00000580263.5:n.229-87del
ENST00000581562.5:n.186-87del
ENST00000582056.5:n.229-87del
ENST00000582356.5:n.264-87del
ENST00000583312.5:c.139-87del	ENSP00000467920.1:n.139-87del
ENST00000584103.5:c.139-87del	ENSP00000465353.1:n.139-87del
NM_000018.3:c.139-87del	NP_000009.1:n.139-87del
NM_001033859.2:c.138+180del	NP_001029031.1:n.138+180del
NM_001270447.1:c.208-87del	NP_001257376.1:n.208-87del
NM_001270448.1:c.-90-87del	NP_001257377.1:n.-90-87del
XM_006721516.2:c.139-87del	XP_006721579.2:n.139-87del
XM_011523829.1:c.139-87del	XP_011522131.1:n.139-87del
XM_011523830.1:c.139-87del	XP_011522132.1:n.139-87del
XR_934021.1:n.246-87del
XR_934022.1:n.246-87del
XR_934023.1:n.246-87del
XM_006721516.3:c.139-87del	XP_006721579.2:n.139-87del
XM_011523829.2:c.139-87del	XP_011522131.1:n.139-87del
XM_011523830.2:c.139-87del	XP_011522132.1:n.139-87del
XM_024450741.1:c.139-87del	XP_024306509.1:n.139-87del
XR_934021.2:n.198-87del
XR_934022.2:n.198-87del
XR_934023.2:n.198-87del
NM_000018.4:c.139-87del MANE Select	NP_000009.1:n.139-87del
NM_001033859.3:c.138+180del	NP_001029031.1:n.138+180del
NM_001270447.2:c.208-87del	NP_001257376.1:n.208-87del
NM_001270448.2:c.-90-87del	NP_001257377.1:n.-90-87del