Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224528_7224529insCT , CM000679.2:g.7224528_7224529insCT	GRCh38
NC_000017.10:g.7127847_7127848insCT , CM000679.1:g.7127847_7127848insCT	GRCh37
NC_000017.9:g.7068571_7068572insCT	NCBI36
NG_007975.1:g.9695_9696insCT
NG_008391.2:g.522_523insAG
NG_033038.1:g.15016_15017insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1654_1655insCT MANE Select	ENSP00000349297.5:p.Ile552ThrfsTer2
ENST00000322910.9:c.1609_1610insCT	ENSP00000325395.5:n.1609_1610insCT
ENST00000350303.9:c.1588_1589insCT	ENSP00000344152.5:p.Ile530ThrfsTer2
ENST00000356839.9:c.1654_1655insCT	ENSP00000349297.5:p.Ile552ThrfsTer2
ENST00000542255.6:c.512_513insCT
ENST00000543245.6:c.1723_1724insCT	ENSP00000438689.2:p.Ile575ThrfsTer2
ENST00000578319.5:n.235_236insCT
ENST00000578711.1:n.1024_1025insCT
ENST00000578809.5:n.226_227insCT
ENST00000579391.1:n.258_259insCT
ENST00000579425.5:n.770_771insCT
ENST00000579546.1:c.389_390insCT
ENST00000582450.1:n.162_163insCT
ENST00000583074.5:n.275_276insCT
ENST00000583848.5:c.40_41insCT	ENSP00000466487.1:p.Ile14ThrfsTer2
ENST00000583850.5:n.425_426insCT
ENST00000583858.5:c.585_586insCT
ENST00000585203.6:n.845_846insCT
NM_000018.3:c.1654_1655insCT	NP_000009.1:p.Ile552ThrfsTer2
NM_001033859.2:c.1588_1589insCT	NP_001029031.1:p.Ile530ThrfsTer2
NM_001270447.1:c.1723_1724insCT	NP_001257376.1:p.Ile575ThrfsTer2
NM_001270448.1:c.1426_1427insCT	NP_001257377.1:p.Ile476ThrfsTer2
XM_006721516.2:c.1654_1655insCT	XP_006721579.2:p.Ile552ThrfsTer2
XM_011523829.1:c.1552_1553insCT	XP_011522131.1:p.Ile518ThrfsTer2
XM_011523830.1:c.1552_1553insCT	XP_011522132.1:p.Ile518ThrfsTer2
XR_934021.1:n.1757_1758insCT
XR_934022.1:n.1663_1664insCT
XR_934023.1:n.1663_1664insCT
XM_006721516.3:c.1654_1655insCT	XP_006721579.2:p.Ile552ThrfsTer2
XM_011523829.2:c.1552_1553insCT	XP_011522131.1:p.Ile518ThrfsTer2
XM_011523830.2:c.1552_1553insCT	XP_011522132.1:p.Ile518ThrfsTer2
XM_024450741.1:c.1642_1643insCT	XP_024306509.1:p.Ile548ThrfsTer2
XR_934021.2:n.1709_1710insCT
XR_934022.2:n.1615_1616insCT
XR_934023.2:n.1615_1616insCT
NM_000018.4:c.1654_1655insCT MANE Select	NP_000009.1:p.Ile552ThrfsTer2
NM_001033859.3:c.1588_1589insCT	NP_001029031.1:p.Ile530ThrfsTer2
NM_001270447.2:c.1723_1724insCT	NP_001257376.1:p.Ile575ThrfsTer2
NM_001270448.2:c.1426_1427insCT	NP_001257377.1:p.Ile476ThrfsTer2