Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224344_7224345delinsTG , CM000679.2:g.7224344_7224345delinsTG	GRCh38
NC_000017.10:g.7127663_7127664delinsTG , CM000679.1:g.7127663_7127664delinsTG	GRCh37
NC_000017.9:g.7068387_7068388delinsTG	NCBI36
NG_007975.1:g.9511_9512delinsTG
NG_008391.2:g.706_707delinsCA
NG_033038.1:g.15200_15201delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1556_1557delinsTG MANE Select	ENSP00000349297.5:p.Leu519=
ENST00000322910.9:c.1511_1512delinsTG	ENSP00000325395.5:n.1511_1512delinsTG
ENST00000350303.9:c.1490_1491delinsTG	ENSP00000344152.5:p.Leu497=
ENST00000356839.9:c.1556_1557delinsTG	ENSP00000349297.5:p.Leu519=
ENST00000542255.6:c.414_415delinsTG
ENST00000543245.6:c.1625_1626delinsTG	ENSP00000438689.2:p.Leu542=
ENST00000578319.5:n.51_52delinsTG
ENST00000578711.1:n.840_841delinsTG
ENST00000578809.5:n.128_129delinsTG
ENST00000579391.1:n.164_165delinsTG
ENST00000579425.5:n.672_673delinsTG
ENST00000579546.1:c.295_296delinsTG
ENST00000579894.5:n.343_344delinsTG
ENST00000582450.1:n.64_65delinsTG
ENST00000583074.5:n.177_178delinsTG
ENST00000583850.5:n.331_332delinsTG
ENST00000583858.5:c.487_488delinsTG
ENST00000585203.6:n.747_748delinsTG
NM_000018.3:c.1556_1557delinsTG	NP_000009.1:p.Leu519=
NM_001033859.2:c.1490_1491delinsTG	NP_001029031.1:p.Leu497=
NM_001270447.1:c.1625_1626delinsTG	NP_001257376.1:p.Leu542=
NM_001270448.1:c.1328_1329delinsTG	NP_001257377.1:p.Leu443=
XM_006721516.2:c.1556_1557delinsTG	XP_006721579.2:p.Leu519=
XM_011523829.1:c.1458_1459delinsTG	XP_011522131.1:p.Pro486=
XM_011523830.1:c.1458_1459delinsTG	XP_011522132.1:p.Pro486=
XR_934021.1:n.1663_1664delinsTG
XR_934022.1:n.1565_1566delinsTG
XR_934023.1:n.1565_1566delinsTG
XM_006721516.3:c.1556_1557delinsTG	XP_006721579.2:p.Leu519=
XM_011523829.2:c.1458_1459delinsTG	XP_011522131.1:p.Pro486=
XM_011523830.2:c.1458_1459delinsTG	XP_011522132.1:p.Pro486=
XM_024450741.1:c.1458_1459delinsTG	XP_024306509.1:p.Pro486=
XR_934021.2:n.1615_1616delinsTG
XR_934022.2:n.1517_1518delinsTG
XR_934023.2:n.1517_1518delinsTG
NM_000018.4:c.1556_1557delinsTG MANE Select	NP_000009.1:p.Leu519=
NM_001033859.3:c.1490_1491delinsTG	NP_001029031.1:p.Leu497=
NM_001270447.2:c.1625_1626delinsTG	NP_001257376.1:p.Leu542=
NM_001270448.2:c.1328_1329delinsTG	NP_001257377.1:p.Leu443=