Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224374_7224378del , CM000679.2:g.7224374_7224378del	GRCh38
NC_000017.10:g.7127693_7127697del , CM000679.1:g.7127693_7127697del	GRCh37
NC_000017.9:g.7068417_7068421del	NCBI36
NG_007975.1:g.9541_9545del
NG_008391.2:g.677_681del
NG_033038.1:g.15171_15175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1586_1590del MANE Select	ENSP00000349297.5:p.Leu529SerfsTer?
ENST00000322910.9:c.1541_1545del	ENSP00000325395.5:n.1541_1545del
ENST00000350303.9:c.1520_1524del	ENSP00000344152.5:p.Leu507SerfsTer?
ENST00000356839.9:c.1586_1590del	ENSP00000349297.5:p.Leu529SerfsTer?
ENST00000542255.6:c.444_448del
ENST00000543245.6:c.1655_1659del	ENSP00000438689.2:p.Leu552SerfsTer?
ENST00000578319.5:n.81_85del
ENST00000578711.1:n.870_874del
ENST00000578809.5:n.158_162del
ENST00000579391.1:n.194_198del
ENST00000579425.5:n.702_706del
ENST00000579546.1:c.325_329del
ENST00000579894.5:n.373_377del
ENST00000582450.1:n.94_98del
ENST00000583074.5:n.207_211del
ENST00000583850.5:n.361_365del
ENST00000583858.5:c.517_521del
ENST00000585203.6:n.777_781del
NM_000018.3:c.1586_1590del	NP_000009.1:p.Leu529SerfsTer?
NM_001033859.2:c.1520_1524del	NP_001029031.1:p.Leu507SerfsTer?
NM_001270447.1:c.1655_1659del	NP_001257376.1:p.Leu552SerfsTer?
NM_001270448.1:c.1358_1362del	NP_001257377.1:p.Leu453SerfsTer?
XM_006721516.2:c.1586_1590del	XP_006721579.2:p.Leu529SerfsTer?
XM_011523829.1:c.1488_1492del	XP_011522131.1:p.Glu497GlyfsTer29
XM_011523830.1:c.1488_1492del	XP_011522132.1:p.Glu497GlyfsTer29
XR_934021.1:n.1693_1697del
XR_934022.1:n.1595_1599del
XR_934023.1:n.1595_1599del
XM_006721516.3:c.1586_1590del	XP_006721579.2:p.Leu529SerfsTer?
XM_011523829.2:c.1488_1492del	XP_011522131.1:p.Glu497GlyfsTer29
XM_011523830.2:c.1488_1492del	XP_011522132.1:p.Glu497GlyfsTer29
XM_024450741.1:c.1488_1492del	XP_024306509.1:p.Glu497GlyfsTer6
XR_934021.2:n.1645_1649del
XR_934022.2:n.1547_1551del
XR_934023.2:n.1547_1551del
NM_000018.4:c.1586_1590del MANE Select	NP_000009.1:p.Leu529SerfsTer?
NM_001033859.3:c.1520_1524del	NP_001029031.1:p.Leu507SerfsTer?
NM_001270447.2:c.1655_1659del	NP_001257376.1:p.Leu552SerfsTer?
NM_001270448.2:c.1358_1362del	NP_001257377.1:p.Leu453SerfsTer?