Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1106484_1106486dup , CM000681.2:g.1106484_1106486dup	GRCh38
NC_000019.9:g.1106483_1106485dup , CM000681.1:g.1106483_1106485dup	GRCh37
NC_000019.8:g.1057483_1057485dup	NCBI36
NG_050621.1:g.7559_7561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585362.7:c.672+25_672+27dup	ENSP00000473614.3:n.672+25_672+27dup
ENST00000593032.6:c.541+25_541+27dup	ENSP00000465828.4:n.541+25_541+27dup
ENST00000706713.1:c.555+25_555+27dup	ENSP00000516510.1:n.555+25_555+27dup
ENST00000706714.1:c.541+25_541+27dup	ENSP00000516511.1:n.541+25_541+27dup
ENST00000706715.1:c.177+25_177+27dup	ENSP00000516512.1:n.177+25_177+27dup
ENST00000354171.13:c.561+25_561+27dup MANE Select	ENSP00000346103.7:n.561+25_561+27dup
ENST00000589115.6:c.536+25_536+27dup	ENSP00000466872.3:n.536+25_536+27dup
ENST00000354171.12:c.561+25_561+27dup	ENSP00000346103.7:n.561+25_561+27dup
ENST00000585480.1:c.294+25_294+27dup	ENSP00000467900.1:n.294+25_294+27dup
ENST00000587648.5:c.441+25_441+27dup	ENSP00000468349.1:n.441+25_441+27dup
ENST00000588919.5:c.502+25_502+27dup	ENSP00000464989.3:n.502+25_502+27dup
ENST00000589115.5:c.536+25_536+27dup	ENSP00000466872.2:n.536+25_536+27dup
ENST00000592940.2:n.932+25_932+27dup
ENST00000611653.4:c.480+25_480+27dup	ENSP00000483655.1:n.480+25_480+27dup
ENST00000616066.4:c.558+25_558+27dup	ENSP00000485000.1:n.558+25_558+27dup
ENST00000622390.4:c.669+25_669+27dup	ENSP00000477503.1:n.669+25_669+27dup
NM_001039847.2:c.583+25_583+27dup	NP_001034936.1:n.583+25_583+27dup
NM_001039848.2:c.672+25_672+27dup	NP_001034937.1:n.672+25_672+27dup
NM_002085.4:c.561+25_561+27dup	NP_002076.2:n.561+25_561+27dup
NM_001039848.3:c.672+25_672+27dup	NP_001034937.1:n.672+25_672+27dup
NM_001039847.3:c.583+25_583+27dup	NP_001034936.1:n.583+25_583+27dup
NM_001039848.4:c.672+25_672+27dup	NP_001034937.1:n.672+25_672+27dup
NM_001367832.1:c.480+25_480+27dup	NP_001354761.1:n.480+25_480+27dup
NM_002085.5:c.561+25_561+27dup MANE Select	NP_002076.2:n.561+25_561+27dup