Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075745_65075747del , CM000676.2:g.65075745_65075747del	GRCh38
NC_000014.8:g.65542463_65542465del , CM000676.1:g.65542463_65542465del	GRCh37
NC_000014.7:g.64612216_64612218del	NCBI36
NG_029830.1:g.31769_31771del , LRG_530:g.31769_31771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.735_737del	ENSP00000452206.2:n.735_737del
ENST00000556979.6:c.1671_1673del	ENSP00000452378.1:n.1671_1673del
ENST00000358664.9:c.735_737del MANE Select	ENSP00000351490.4:n.735_737del
ENST00000651648.1:c.145-5372_145-5370del	ENSP00000498863.1:n.145-5372_145-5370del
ENST00000284165.10:c.2062_2064del	ENSP00000284165.6:n.2062_2064del
ENST00000341653.6:c.171+17967_171+17969del	ENSP00000342482.2:n.171+17967_171+17969del
ENST00000358402.8:c.735_737del	ENSP00000351175.4:n.735_737del
ENST00000358664.8:c.735_737del	ENSP00000351490.4:n.735_737del
ENST00000394606.6:c.991_993del	ENSP00000378104.2:n.991_993del
ENST00000555932.5:c.710_712del	ENSP00000450763.1:n.710_712del
ENST00000618858.4:c.1007_1009del	ENSP00000480127.1:n.1007_1009del
NM_001271069.1:c.144+17967_144+17969del	NP_001257998.1:n.144+17967_144+17969del
NM_002382.4:c.735_737del	NP_002373.3:n.735_737del
NM_145112.2:c.735_737del	NP_660087.1:n.735_737del
NM_145113.2:c.1007_1009del	NP_660088.1:n.1007_1009del
NM_197957.3:c.171+17967_171+17969del	NP_932061.1:n.171+17967_171+17969del
NR_073137.1:n.1342_1344del
XR_429315.2:n.1505_1507del
NM_001320415.1:c.735_737del	NP_001307344.1:n.735_737del
XM_017021312.2:c.735_737del	XP_016876801.1:n.735_737del
XM_017021313.1:c.735_737del	XP_016876802.1:n.735_737del
XR_001750326.2:n.1563_1565del
XR_001750327.2:n.1482_1484del
XR_002957553.1:n.1996_1998del
XR_943450.3:n.1586_1588del
XR_943451.3:n.1602_1604del
XR_943452.3:n.1547_1549del
NM_001320415.2:c.735_737del	NP_001307344.1:n.735_737del
NM_002382.5:c.735_737del MANE Select	NP_002373.3:n.735_737del
NM_145112.3:c.735_737del	NP_660087.1:n.735_737del
NM_145113.3:c.1007_1009del	NP_660088.1:n.1007_1009del
NM_001271069.2:c.144+17967_144+17969del	NP_001257998.1:n.144+17967_144+17969del
NM_197957.4:c.171+17967_171+17969del	NP_932061.1:n.171+17967_171+17969del

HGVS	Amino-acid Change
ENST00000556892.6:c.735_737del	ENSP00000452206.2:n.735_737del
ENST00000556979.6:c.1671_1673del	ENSP00000452378.1:n.1671_1673del
ENST00000358664.9:c.735_737del MANE Select	ENSP00000351490.4:n.735_737del
ENST00000651648.1:c.145-5372_145-5370del	ENSP00000498863.1:n.145-5372_145-5370del
ENST00000284165.10:c.2062_2064del	ENSP00000284165.6:n.2062_2064del
ENST00000341653.6:c.171+17967_171+17969del	ENSP00000342482.2:n.171+17967_171+17969del
ENST00000358402.8:c.735_737del	ENSP00000351175.4:n.735_737del
ENST00000358664.8:c.735_737del	ENSP00000351490.4:n.735_737del
ENST00000394606.6:c.991_993del	ENSP00000378104.2:n.991_993del
ENST00000555932.5:c.710_712del	ENSP00000450763.1:n.710_712del
ENST00000618858.4:c.1007_1009del	ENSP00000480127.1:n.1007_1009del
NM_001271069.1:c.144+17967_144+17969del	NP_001257998.1:n.144+17967_144+17969del
NM_002382.4:c.735_737del	NP_002373.3:n.735_737del
NM_145112.2:c.735_737del	NP_660087.1:n.735_737del
NM_145113.2:c.1007_1009del	NP_660088.1:n.1007_1009del
NM_197957.3:c.171+17967_171+17969del	NP_932061.1:n.171+17967_171+17969del
NR_073137.1:n.1342_1344del
XR_429315.2:n.1505_1507del
NM_001320415.1:c.735_737del	NP_001307344.1:n.735_737del
XM_017021312.2:c.735_737del	XP_016876801.1:n.735_737del
XM_017021313.1:c.735_737del	XP_016876802.1:n.735_737del
XR_001750326.2:n.1563_1565del
XR_001750327.2:n.1482_1484del
XR_002957553.1:n.1996_1998del
XR_943450.3:n.1586_1588del
XR_943451.3:n.1602_1604del
XR_943452.3:n.1547_1549del
NM_001320415.2:c.735_737del	NP_001307344.1:n.735_737del
NM_002382.5:c.735_737del MANE Select	NP_002373.3:n.735_737del
NM_145112.3:c.735_737del	NP_660087.1:n.735_737del
NM_145113.3:c.1007_1009del	NP_660088.1:n.1007_1009del
NM_001271069.2:c.144+17967_144+17969del	NP_001257998.1:n.144+17967_144+17969del
NM_197957.4:c.171+17967_171+17969del	NP_932061.1:n.171+17967_171+17969del