Canonical Allele Identifier: CA9257630

Gene: ADGRE2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14752410_14752426del , CM000681.2:g.14752410_14752426del	GRCh38
NC_000019.9:g.14863222_14863238del , CM000681.1:g.14863222_14863238del	GRCh37
NC_000019.8:g.14724222_14724238del	NCBI36
NG_047146.1:g.31118_31134del

Transcript Alleles

HGVS	Amino-acid Change
NM_013447.4:c.1693_1709del MANE Select	NP_038475.2:p.Gln565ThrfsTer21
ENST00000315576.8:c.1693_1709del MANE Select	ENSP00000319883.3:p.Gln565ThrfsTer21
NM_001271052.1:c.1519_1535del	NP_001257981.1:p.Gln507ThrfsTer21
NM_013447.3:c.1693_1709del	NP_038475.2:p.Gln565ThrfsTer21
ENST00000315576.7:c.1693_1709del	ENSP00000319883.3:p.Gln565ThrfsTer21
ENST00000360222.8:n.2079-753_2079-737del
ENST00000392962.3:c.*8_*24del	ENSP00000376689.3:n.*8_*24del
ENST00000392965.7:c.1519_1535del	ENSP00000376692.3:p.Gln507ThrfsTer21
ENST00000594076.5:c.1414_1430del	ENSP00000472735.1:p.Gln472ThrfsTer21
ENST00000594294.5:c.1546_1562del	ENSP00000470725.1:p.Gln516ThrfsTer21
ENST00000595208.5:c.1000_1016del
ENST00000595839.5:c.1267_1283del	ENSP00000469277.1:p.Gln423ThrfsTer21
ENST00000596991.6:c.1660_1676del	ENSP00000472280.2:p.Gln554ThrfsTer21
ENST00000601345.5:c.1660_1676del	ENSP00000471297.1:p.Gln554ThrfsTer21
XM_011527948.1:c.1693_1709del	XP_011526250.1:p.Gln565ThrfsTer21
XM_011527948.2:c.1693_1709del	XP_011526250.1:p.Gln565ThrfsTer21
XM_011527949.1:c.1660_1676del	XP_011526251.1:p.Gln554ThrfsTer21
XM_011527949.2:c.1660_1676del	XP_011526251.1:p.Gln554ThrfsTer21
XM_011527950.1:c.1693_1709del	XP_011526252.1:p.Gln565ThrfsTer21
XM_011527951.1:c.1546_1562del	XP_011526253.1:p.Gln516ThrfsTer21
XM_011527951.3:c.1546_1562del	XP_011526253.1:p.Gln516ThrfsTer21
XM_011527952.1:c.1519_1535del	XP_011526254.1:p.Gln507ThrfsTer21
XM_011527952.3:c.1519_1535del	XP_011526254.1:p.Gln507ThrfsTer21
XM_011527953.1:c.1414_1430del	XP_011526255.1:p.Gln472ThrfsTer21
XM_011527953.2:c.1414_1430del	XP_011526255.1:p.Gln472ThrfsTer21
XM_011527954.1:c.1354_1370del	XP_011526256.1:p.Gln452ThrfsTer21
XM_011527954.3:c.1354_1370del	XP_011526256.1:p.Gln452ThrfsTer21
XM_011527955.1:c.1096_1112del	XP_011526257.1:p.Gln366ThrfsTer21
XM_011527955.2:c.1096_1112del	XP_011526257.1:p.Gln366ThrfsTer21
XM_017026726.1:c.1576_1592del	XP_016882215.1:p.Gln526ThrfsTer21
XM_017026727.1:c.1339_1355del	XP_016882216.1:p.Gln447ThrfsTer21
XR_001753674.1:n.1554_1570del
XR_001753675.1:n.1407_1423del
XR_936171.1:n.1554_1570del
XR_936172.1:n.1407_1423del
XR_936173.1:n.1380_1396del
XR_936174.1:n.1233_1249del