Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159176552_159176553delinsTA , CM000667.2:g.159176552_159176553delinsTA	GRCh38
NC_000005.9:g.158603560_158603561delinsTA , CM000667.1:g.158603560_158603561delinsTA	GRCh37
NC_000005.8:g.158536138_158536139delinsTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424310.7:c.621+79_621+80delinsTA MANE Select	ENSP00000409064.2:n.621+79_621+80delinsTA
ENST00000274542.6:c.705+79_705+80delinsTA	ENSP00000274542.2:n.705+79_705+80delinsTA
ENST00000424310.6:c.621+79_621+80delinsTA	ENSP00000409064.2:n.621+79_621+80delinsTA
ENST00000518802.5:c.711+79_711+80delinsTA	ENSP00000430955.1:n.711+79_711+80delinsTA
ENST00000519865.5:c.621+79_621+80delinsTA	ENSP00000430397.1:n.621+79_621+80delinsTA
ENST00000520638.1:c.663+79_663+80delinsTA	ENSP00000429071.1:n.663+79_663+80delinsTA
ENST00000521606.6:c.672+79_672+80delinsTA	ENSP00000430753.2:n.672+79_672+80delinsTA
ENST00000611185.4:c.621+79_621+80delinsTA	ENSP00000482720.1:n.621+79_621+80delinsTA
NM_001199380.1:c.711+79_711+80delinsTA	NP_001186309.1:n.711+79_711+80delinsTA
NM_001199381.1:c.672+79_672+80delinsTA	NP_001186310.1:n.672+79_672+80delinsTA
NM_001199382.1:c.663+79_663+80delinsTA	NP_001186311.1:n.663+79_663+80delinsTA
NM_001199383.1:c.621+79_621+80delinsTA	NP_001186312.1:n.621+79_621+80delinsTA
NM_144726.2:c.705+79_705+80delinsTA	NP_653327.1:n.705+79_705+80delinsTA
XM_005265826.3:c.669+79_669+80delinsTA	XP_005265883.1:n.669+79_669+80delinsTA
XM_017009138.2:c.621+79_621+80delinsTA	XP_016864627.1:n.621+79_621+80delinsTA
XM_024454383.1:c.669+79_669+80delinsTA	XP_024310151.1:n.669+79_669+80delinsTA
NM_001199381.2:c.672+79_672+80delinsTA	NP_001186310.1:n.672+79_672+80delinsTA
NM_001199383.2:c.621+79_621+80delinsTA MANE Select	NP_001186312.1:n.621+79_621+80delinsTA
NM_001199380.2:c.711+79_711+80delinsTA	NP_001186309.1:n.711+79_711+80delinsTA
NM_001199382.2:c.663+79_663+80delinsTA	NP_001186311.1:n.663+79_663+80delinsTA
NM_144726.3:c.705+79_705+80delinsTA	NP_653327.1:n.705+79_705+80delinsTA