Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55200764_55200766del , CM000669.2:g.55200764_55200766del	GRCh38
NC_000007.13:g.55268457_55268459del , CM000669.1:g.55268457_55268459del	GRCh37
NC_000007.12:g.55235951_55235953del	NCBI36
NG_007726.3:g.186733_186735del , LRG_304:g.186733_186735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2787+351_2787+353del	ENSP00000413354.2:n.2787+351_2787+353del
ENST00000700145.1:c.900-4583_900-4581del
ENST00000700146.1:n.690+351_690+353del
ENST00000700147.1:n.192_194del
ENST00000275493.7:c.2946+351_2946+353del MANE Select	ENSP00000275493.2:n.2946+351_2946+353del
ENST00000275493.6:c.2946+351_2946+353del	ENSP00000275493.2:n.2946+351_2946+353del
ENST00000442591.5:c.28+27836_28+27838del	ENSP00000410031.1:n.28+27836_28+27838del
ENST00000454757.6:c.2811+351_2811+353del	ENSP00000395243.3:n.2811+351_2811+353del
ENST00000455089.5:c.2811+351_2811+353del	ENSP00000415559.1:n.2811+351_2811+353del
ENST00000485503.1:n.627_629del
NM_005228.3:c.2946+351_2946+353del , LRG_304t1:c.2946+351_2946+353del	NP_005219.2:n.2946+351_2946+353del
NM_001346897.1:c.2811+351_2811+353del	NP_001333826.1:n.2811+351_2811+353del
NM_001346898.1:c.2946+351_2946+353del	NP_001333827.1:n.2946+351_2946+353del
NM_001346899.1:c.2811+351_2811+353del	NP_001333828.1:n.2811+351_2811+353del
NM_001346900.1:c.2787+351_2787+353del	NP_001333829.1:n.2787+351_2787+353del
NM_001346941.1:c.2145+351_2145+353del	NP_001333870.1:n.2145+351_2145+353del
NM_005228.4:c.2946+351_2946+353del	NP_005219.2:n.2946+351_2946+353del
NM_005228.5:c.2946+351_2946+353del MANE Select	NP_005219.2:n.2946+351_2946+353del
NM_001346897.2:c.2811+351_2811+353del	NP_001333826.1:n.2811+351_2811+353del
NM_001346898.2:c.2946+351_2946+353del	NP_001333827.1:n.2946+351_2946+353del
NM_001346900.2:c.2787+351_2787+353del	NP_001333829.1:n.2787+351_2787+353del
NM_001346941.2:c.2145+351_2145+353del	NP_001333870.1:n.2145+351_2145+353del
NM_001346899.2:c.2811+351_2811+353del	NP_001333828.1:n.2811+351_2811+353del