Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647301_34647306del , CM000671.2:g.34647301_34647306del	GRCh38
NC_000009.11:g.34647298_34647303del , CM000671.1:g.34647298_34647303del	GRCh37
NC_000009.10:g.34637298_34637303del	NCBI36
NG_009029.1:g.5664_5669del
NG_028966.1:g.117_122del
NG_009029.2:g.5713_5718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+43_252+48del	ENSP00000509954.1:n.252+43_252+48del
ENST00000378842.8:c.252+43_252+48del MANE Select	ENSP00000368119.4:n.252+43_252+48del
ENST00000378842.7:c.252+43_252+48del	ENSP00000368119.3:n.252+43_252+48del
ENST00000450095.6:c.50+43_50+48del	ENSP00000401956.2:n.50+43_50+48del
ENST00000465543.6:n.591+43_591+48del
ENST00000468099.2:n.335_340del
ENST00000472111.5:n.293+43_293+48del
ENST00000473506.6:c.252+43_252+48del	ENSP00000432839.2:n.252+43_252+48del
ENST00000473529.5:n.299+43_299+48del
ENST00000485531.1:n.288_293del
ENST00000487381.5:n.321_326del
ENST00000489643.6:n.282+43_282+48del
ENST00000554085.5:c.252+43_252+48del	ENSP00000450419.1:n.252+43_252+48del
ENST00000554139.5:n.305+43_305+48del
ENST00000554330.5:n.249+43_249+48del
ENST00000554550.5:c.252+43_252+48del	ENSP00000451435.1:n.252+43_252+48del
ENST00000554638.5:n.319_324del
ENST00000554897.5:c.252+43_252+48del	ENSP00000450942.1:n.252+43_252+48del
ENST00000554944.5:n.282+43_282+48del
ENST00000555020.5:n.282+43_282+48del
ENST00000555086.5:n.256+43_256+48del
ENST00000555214.5:n.261+43_261+48del
ENST00000556157.1:n.359+43_359+48del
ENST00000556244.1:c.136+43_136+48del
ENST00000556278.1:c.252+43_252+48del	ENSP00000451792.1:n.252+43_252+48del
ENST00000556403.5:n.265+43_265+48del
ENST00000556494.5:n.284+43_284+48del
ENST00000557541.5:n.445+43_445+48del
ENST00000557706.5:n.409_414del
NM_000155.3:c.252+43_252+48del	NP_000146.2:n.252+43_252+48del
NM_001258332.1:c.50+43_50+48del	NP_001245261.1:n.50+43_50+48del
NM_000155.4:c.252+43_252+48del MANE Select	NP_000146.2:n.252+43_252+48del
NM_001258332.2:c.50+43_50+48del	NP_001245261.1:n.50+43_50+48del