Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052260_37052263del , CM000667.2:g.37052260_37052263del	GRCh38
NC_000005.9:g.37052362_37052365del , CM000667.1:g.37052362_37052365del	GRCh37
NC_000005.8:g.37088119_37088122del	NCBI36
NG_006987.1:g.180378_180381del
NG_006987.2:g.180378_180381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7063-106_7063-103del MANE Select	ENSP00000282516.8:n.7063-106_7063-103del
ENST00000652901.1:c.7063-106_7063-103del	ENSP00000499536.1:n.7063-106_7063-103del
ENST00000282516.12:c.7063-106_7063-103del	ENSP00000282516.8:n.7063-106_7063-103del
ENST00000448238.2:c.7063-106_7063-103del	ENSP00000406266.2:n.7063-106_7063-103del
ENST00000514335.1:n.945-106_945-103del
ENST00000621733.1:c.1-12318_1-12315del	ENSP00000480694.1:n.1-12318_1-12315del
NM_015384.4:c.7063-106_7063-103del	NP_056199.2:n.7063-106_7063-103del
NM_133433.3:c.7063-106_7063-103del	NP_597677.2:n.7063-106_7063-103del
XM_005248280.2:c.7063-106_7063-103del	XP_005248337.1:n.7063-106_7063-103del
XM_005248282.3:c.6319-106_6319-103del	XP_005248339.2:n.6319-106_6319-103del
XM_006714467.2:c.7063-106_7063-103del	XP_006714530.1:n.7063-106_7063-103del
XM_006714468.1:c.6865-106_6865-103del	XP_006714531.1:n.6865-106_6865-103del
XM_011514014.1:c.6682-106_6682-103del	XP_011512316.1:n.6682-106_6682-103del
XM_011514015.1:c.7063-106_7063-103del	XP_011512317.1:n.7063-106_7063-103del
XM_005248280.3:c.7063-106_7063-103del	XP_005248337.1:n.7063-106_7063-103del
XM_005248282.5:c.6403-106_6403-103del	XP_005248339.3:n.6403-106_6403-103del
XM_006714468.2:c.6865-106_6865-103del	XP_006714531.1:n.6865-106_6865-103del
XM_017009329.1:c.7063-106_7063-103del	XP_016864818.1:n.7063-106_7063-103del
XM_017009330.2:c.5446-106_5446-103del	XP_016864819.1:n.5446-106_5446-103del
XM_017009331.1:c.5437-106_5437-103del	XP_016864820.1:n.5437-106_5437-103del
NM_133433.4:c.7063-106_7063-103del MANE Select	NP_597677.2:n.7063-106_7063-103del
NM_015384.5:c.7063-106_7063-103del	NP_056199.2:n.7063-106_7063-103del