Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27172792_27172793insAACACACCCAACACA , CM000671.2:g.27172792_27172793insAACACACCCAACACA	GRCh38
NC_000009.11:g.27172790_27172791insAACACACCCAACACA , CM000671.1:g.27172790_27172791insAACACACCCAACACA	GRCh37
NC_000009.10:g.27162790_27162791insAACACACCCAACACA	NCBI36
NG_011828.1:g.68644_68645insAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.760+45_760+46insAACACACCCAACACA MANE Select	ENSP00000369375.4:n.760+45_760+46insAACACACCCAACACA
ENST00000380036.8:c.760+45_760+46insAACACACCCAACACA	ENSP00000369375.4:n.760+45_760+46insAACACACCCAACACA
ENST00000406359.8:c.760+45_760+46insAACACACCCAACACA	ENSP00000383977.4:n.760+45_760+46insAACACACCCAACACA
ENST00000519080.1:c.319+45_319+46insAACACACCCAACACA	ENSP00000428337.1:n.319+45_319+46insAACACACCCAACACA
ENST00000519097.5:c.448+45_448+46insAACACACCCAACACA	ENSP00000430686.1:n.448+45_448+46insAACACACCCAACACA
ENST00000615002.4:c.760+45_760+46insAACACACCCAACACA	ENSP00000480251.1:n.760+45_760+46insAACACACCCAACACA
NM_000459.4:c.760+45_760+46insAACACACCCAACACA	NP_000450.2:n.760+45_760+46insAACACACCCAACACA
NM_001290077.1:c.760+45_760+46insAACACACCCAACACA	NP_001277006.1:n.760+45_760+46insAACACACCCAACACA
NM_001290078.1:c.448+45_448+46insAACACACCCAACACA	NP_001277007.1:n.448+45_448+46insAACACACCCAACACA
XM_005251561.1:c.760+45_760+46insAACACACCCAACACA	XP_005251618.1:n.760+45_760+46insAACACACCCAACACA
XM_005251563.1:c.760+45_760+46insAACACACCCAACACA	XP_005251620.1:n.760+45_760+46insAACACACCCAACACA
XM_005251561.2:c.760+45_760+46insAACACACCCAACACA	XP_005251618.1:n.760+45_760+46insAACACACCCAACACA
XM_005251563.2:c.760+45_760+46insAACACACCCAACACA	XP_005251620.1:n.760+45_760+46insAACACACCCAACACA
NM_000459.5:c.760+45_760+46insAACACACCCAACACA MANE Select	NP_000450.3:n.760+45_760+46insAACACACCCAACACA
NM_001375475.1:c.760+45_760+46insAACACACCCAACACA	NP_001362404.1:n.760+45_760+46insAACACACCCAACACA
NM_001375476.1:c.760+45_760+46insAACACACCCAACACA	NP_001362405.1:n.760+45_760+46insAACACACCCAACACA