Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075196_65075197del , CM000676.2:g.65075196_65075197del	GRCh38
NC_000014.8:g.65541914_65541915del , CM000676.1:g.65541914_65541915del	GRCh37
NC_000014.7:g.64611667_64611668del	NCBI36
NG_029830.1:g.32313_32314del , LRG_530:g.32313_32314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.2215_2216del	ENSP00000452378.1:n.2215_2216del
ENST00000358664.9:c.1279_1280del MANE Select	ENSP00000351490.4:n.1279_1280del
ENST00000651648.1:c.145-4828_145-4827del	ENSP00000498863.1:n.145-4828_145-4827del
ENST00000341653.6:c.171+18511_171+18512del	ENSP00000342482.2:n.171+18511_171+18512de...
ENST00000358402.8:c.1279_1280del	ENSP00000351175.4:n.1279_1280del
ENST00000394606.6:c.1535_1536del	ENSP00000378104.2:n.1535_1536del
ENST00000555932.5:c.1254_1255del	ENSP00000450763.1:n.1254_1255del
ENST00000618858.4:c.1551_1552del	ENSP00000480127.1:n.1551_1552del
NM_001271069.1:c.144+18511_144+18512del	NP_001257998.1:n.144+18511_144+18512del
NM_002382.4:c.1279_1280del	NP_002373.3:n.1279_1280del
NM_145112.2:c.1279_1280del	NP_660087.1:n.1279_1280del
NM_145113.2:c.1551_1552del	NP_660088.1:n.1551_1552del
NM_197957.3:c.171+18511_171+18512del	NP_932061.1:n.171+18511_171+18512del
NR_073137.1:n.1886_1887del
XR_429315.2:n.2049_2050del
NM_001320415.1:c.1279_1280del	NP_001307344.1:n.1279_1280del
XM_017021312.2:c.1279_1280del	XP_016876801.1:n.1279_1280del
XM_017021313.1:c.1279_1280del	XP_016876802.1:n.1279_1280del
XR_001750326.2:n.2107_2108del
XR_001750327.2:n.2026_2027del
XR_002957553.1:n.2540_2541del
XR_943450.3:n.2130_2131del
XR_943451.3:n.2146_2147del
XR_943452.3:n.2091_2092del
NM_001320415.2:c.1279_1280del	NP_001307344.1:n.1279_1280del
NM_002382.5:c.1279_1280del MANE Select	NP_002373.3:n.1279_1280del
NM_145112.3:c.1279_1280del	NP_660087.1:n.1279_1280del
NM_145113.3:c.1551_1552del	NP_660088.1:n.1551_1552del
NM_001271069.2:c.144+18511_144+18512del	NP_001257998.1:n.144+18511_144+18512del
NM_197957.4:c.171+18511_171+18512del	NP_932061.1:n.171+18511_171+18512del

HGVS	Amino-acid change
ENST00000556979.6:c.2215_2216del	ENSP00000452378.1:n.2215_2216del
ENST00000358664.9:c.1279_1280del MANE Select	ENSP00000351490.4:n.1279_1280del
ENST00000651648.1:c.145-4828_145-4827del	ENSP00000498863.1:n.145-4828_145-4827del
ENST00000341653.6:c.171+18511_171+18512del	ENSP00000342482.2:n.171+18511_171+18512de...
ENST00000358402.8:c.1279_1280del	ENSP00000351175.4:n.1279_1280del
ENST00000394606.6:c.1535_1536del	ENSP00000378104.2:n.1535_1536del
ENST00000555932.5:c.1254_1255del	ENSP00000450763.1:n.1254_1255del
ENST00000618858.4:c.1551_1552del	ENSP00000480127.1:n.1551_1552del
NM_001271069.1:c.144+18511_144+18512del	NP_001257998.1:n.144+18511_144+18512del
NM_002382.4:c.1279_1280del	NP_002373.3:n.1279_1280del
NM_145112.2:c.1279_1280del	NP_660087.1:n.1279_1280del
NM_145113.2:c.1551_1552del	NP_660088.1:n.1551_1552del
NM_197957.3:c.171+18511_171+18512del	NP_932061.1:n.171+18511_171+18512del
NR_073137.1:n.1886_1887del
XR_429315.2:n.2049_2050del
NM_001320415.1:c.1279_1280del	NP_001307344.1:n.1279_1280del
XM_017021312.2:c.1279_1280del	XP_016876801.1:n.1279_1280del
XM_017021313.1:c.1279_1280del	XP_016876802.1:n.1279_1280del
XR_001750326.2:n.2107_2108del
XR_001750327.2:n.2026_2027del
XR_002957553.1:n.2540_2541del
XR_943450.3:n.2130_2131del
XR_943451.3:n.2146_2147del
XR_943452.3:n.2091_2092del
NM_001320415.2:c.1279_1280del	NP_001307344.1:n.1279_1280del
NM_002382.5:c.1279_1280del MANE Select	NP_002373.3:n.1279_1280del
NM_145112.3:c.1279_1280del	NP_660087.1:n.1279_1280del
NM_145113.3:c.1551_1552del	NP_660088.1:n.1551_1552del
NM_001271069.2:c.144+18511_144+18512del	NP_001257998.1:n.144+18511_144+18512del
NM_197957.4:c.171+18511_171+18512del	NP_932061.1:n.171+18511_171+18512del