Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021370del , CM000669.2:g.33021370del	GRCh38
NC_000007.13:g.33060982del , CM000669.1:g.33060982del	GRCh37
NC_000007.12:g.33027507del	NCBI36
NG_015800.1:g.46428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409467.6:c.217-13del	ENSP00000387166.1:n.217-13del
ENST00000610140.7:c.355-13del MANE Select	ENSP00000476480.2:n.355-13del
ENST00000643244.1:c.253-13del	ENSP00000496364.1:n.253-13del
ENST00000242210.11:c.370-13del	ENSP00000242210.7:n.370-13del
ENST00000381626.6:c.217-13del	ENSP00000371039.2:n.217-13del
ENST00000396152.6:c.253-13del	ENSP00000379456.2:n.253-13del
ENST00000405342.5:c.253-13del	ENSP00000385261.1:n.253-13del
ENST00000409467.5:c.217-13del	ENSP00000387166.1:n.217-13del
ENST00000409787.4:c.253-13del	ENSP00000387205.1:n.253-13del
ENST00000456458.5:c.*260-13del	ENSP00000389676.2:n.*260-13del
ENST00000610140.5:c.355-13del	ENSP00000476480.1:n.355-13del
ENST00000620705.4:c.370-13del	ENSP00000484415.1:n.370-13del
NM_001002009.2:c.253-13del	NP_001002009.1:n.253-13del
NM_001002010.2:c.370-13del	NP_001002010.1:n.370-13del
NM_001166118.2:c.217-13del	NP_001159590.1:n.217-13del
NM_016489.12:c.253-13del	NP_057573.2:n.253-13del
XM_011515409.1:c.217-13del	XP_011513711.1:n.217-13del
NM_001002010.3:c.355-13del	NP_001002010.2:n.355-13del
NM_001356996.1:c.217-13del	NP_001343925.1:n.217-13del
NM_001002009.3:c.253-13del	NP_001002009.1:n.253-13del
NM_001002010.5:c.355-13del MANE Select	NP_001002010.2:n.355-13del
NM_001166118.3:c.217-13del	NP_001159590.1:n.217-13del
NM_001356996.2:c.217-13del	NP_001343925.1:n.217-13del
NM_001374335.1:c.256-13del	NP_001361264.1:n.256-13del
NM_001374336.1:c.217-13del	NP_001361265.1:n.217-13del
NM_001374337.1:c.217-13del	NP_001361266.1:n.217-13del
NM_001374338.1:c.355-13del	NP_001361267.1:n.355-13del
NM_001374339.1:c.154-13del	NP_001361268.1:n.154-13del
NM_016489.13:c.253-13del	NP_057573.2:n.253-13del
NM_001356996.3:c.217-13del	NP_001343925.1:n.217-13del
NM_016489.14:c.253-13del	NP_057573.2:n.253-13del