Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075885_65075887del , CM000676.2:g.65075885_65075887del	GRCh38
NC_000014.8:g.65542603_65542605del , CM000676.1:g.65542603_65542605del	GRCh37
NC_000014.7:g.64612356_64612358del	NCBI36
NG_029830.1:g.31623_31625del , LRG_530:g.31623_31625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.589_591del	ENSP00000452206.2:n.589_591del
ENST00000556979.6:c.1525_1527del	ENSP00000452378.1:n.1525_1527del
ENST00000358664.9:c.589_591del MANE Select	ENSP00000351490.4:n.589_591del
ENST00000651648.1:c.145-5518_145-5516del	ENSP00000498863.1:n.145-5518_145-5516del
ENST00000284165.10:c.1916_1918del	ENSP00000284165.6:n.1916_1918del
ENST00000341653.6:c.171+17821_171+17823del	ENSP00000342482.2:n.171+17821_171+17823del
ENST00000358402.8:c.589_591del	ENSP00000351175.4:n.589_591del
ENST00000358664.8:c.589_591del	ENSP00000351490.4:n.589_591del
ENST00000394606.6:c.845_847del	ENSP00000378104.2:n.845_847del
ENST00000555932.5:c.564_566del	ENSP00000450763.1:n.564_566del
ENST00000618858.4:c.861_863del	ENSP00000480127.1:n.861_863del
NM_001271069.1:c.144+17821_144+17823del	NP_001257998.1:n.144+17821_144+17823del
NM_002382.4:c.589_591del	NP_002373.3:n.589_591del
NM_145112.2:c.589_591del	NP_660087.1:n.589_591del
NM_145113.2:c.861_863del	NP_660088.1:n.861_863del
NM_197957.3:c.171+17821_171+17823del	NP_932061.1:n.171+17821_171+17823del
NR_073137.1:n.1196_1198del
XR_429315.2:n.1359_1361del
NM_001320415.1:c.589_591del	NP_001307344.1:n.589_591del
XM_017021312.2:c.589_591del	XP_016876801.1:n.589_591del
XM_017021313.1:c.589_591del	XP_016876802.1:n.589_591del
XR_001750326.2:n.1417_1419del
XR_001750327.2:n.1336_1338del
XR_002957553.1:n.1850_1852del
XR_943450.3:n.1440_1442del
XR_943451.3:n.1456_1458del
XR_943452.3:n.1401_1403del
NM_001320415.2:c.589_591del	NP_001307344.1:n.589_591del
NM_002382.5:c.589_591del MANE Select	NP_002373.3:n.589_591del
NM_145112.3:c.589_591del	NP_660087.1:n.589_591del
NM_145113.3:c.861_863del	NP_660088.1:n.861_863del
NM_001271069.2:c.144+17821_144+17823del	NP_001257998.1:n.144+17821_144+17823del
NM_197957.4:c.171+17821_171+17823del	NP_932061.1:n.171+17821_171+17823del

HGVS	Amino-acid change
ENST00000556892.6:c.589_591del	ENSP00000452206.2:n.589_591del
ENST00000556979.6:c.1525_1527del	ENSP00000452378.1:n.1525_1527del
ENST00000358664.9:c.589_591del MANE Select	ENSP00000351490.4:n.589_591del
ENST00000651648.1:c.145-5518_145-5516del	ENSP00000498863.1:n.145-5518_145-5516del
ENST00000284165.10:c.1916_1918del	ENSP00000284165.6:n.1916_1918del
ENST00000341653.6:c.171+17821_171+17823del	ENSP00000342482.2:n.171+17821_171+17823del
ENST00000358402.8:c.589_591del	ENSP00000351175.4:n.589_591del
ENST00000358664.8:c.589_591del	ENSP00000351490.4:n.589_591del
ENST00000394606.6:c.845_847del	ENSP00000378104.2:n.845_847del
ENST00000555932.5:c.564_566del	ENSP00000450763.1:n.564_566del
ENST00000618858.4:c.861_863del	ENSP00000480127.1:n.861_863del
NM_001271069.1:c.144+17821_144+17823del	NP_001257998.1:n.144+17821_144+17823del
NM_002382.4:c.589_591del	NP_002373.3:n.589_591del
NM_145112.2:c.589_591del	NP_660087.1:n.589_591del
NM_145113.2:c.861_863del	NP_660088.1:n.861_863del
NM_197957.3:c.171+17821_171+17823del	NP_932061.1:n.171+17821_171+17823del
NR_073137.1:n.1196_1198del
XR_429315.2:n.1359_1361del
NM_001320415.1:c.589_591del	NP_001307344.1:n.589_591del
XM_017021312.2:c.589_591del	XP_016876801.1:n.589_591del
XM_017021313.1:c.589_591del	XP_016876802.1:n.589_591del
XR_001750326.2:n.1417_1419del
XR_001750327.2:n.1336_1338del
XR_002957553.1:n.1850_1852del
XR_943450.3:n.1440_1442del
XR_943451.3:n.1456_1458del
XR_943452.3:n.1401_1403del
NM_001320415.2:c.589_591del	NP_001307344.1:n.589_591del
NM_002382.5:c.589_591del MANE Select	NP_002373.3:n.589_591del
NM_145112.3:c.589_591del	NP_660087.1:n.589_591del
NM_145113.3:c.861_863del	NP_660088.1:n.861_863del
NM_001271069.2:c.144+17821_144+17823del	NP_001257998.1:n.144+17821_144+17823del
NM_197957.4:c.171+17821_171+17823del	NP_932061.1:n.171+17821_171+17823del