Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.70783097_70783098insTTA , CM000676.2:g.70783097_70783098insTTA	GRCh38
NC_000014.8:g.71249814_71249815insTTA , CM000676.1:g.71249814_71249815insTTA	GRCh37
NC_000014.7:g.70319567_70319568insTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554752.7:c.820+17569_820+17570insTAA MANE Select	ENSP00000451612.2:n.820+17569_820+17570insTAA
ENST00000381250.8:c.820+17569_820+17570insTAA	ENSP00000370649.4:n.820+17569_820+17570insTAA
ENST00000553414.5:c.-99+125_-99+126insTAA	ENSP00000451038.1:n.-99+125_-99+126insTAA
ENST00000554146.1:c.-16+125_-16+126insTAA	ENSP00000451921.1:n.-16+125_-16+126insTAA
ENST00000554752.6:c.820+17569_820+17570insTAA	ENSP00000451612.2:n.820+17569_820+17570insTAA
ENST00000555993.6:c.820+17569_820+17570insTAA	ENSP00000451263.2:n.820+17569_820+17570insTAA
NM_001284230.1:c.820+17569_820+17570insTAA	NP_001271159.1:n.820+17569_820+17570insTAA
NM_001284231.1:c.-16+125_-16+126insTAA	NP_001271160.1:n.-16+125_-16+126insTAA
NM_001284232.1:c.-99+125_-99+126insTAA	NP_001271161.1:n.-99+125_-99+126insTAA
NM_033141.3:c.820+17569_820+17570insTAA	NP_149132.2:n.820+17569_820+17570insTAA
XM_005267683.3:c.820+17569_820+17570insTAA	XP_005267740.1:n.820+17569_820+17570insTAA
XM_011536788.1:c.820+17569_820+17570insTAA	XP_011535090.1:n.820+17569_820+17570insTAA
XM_011536789.1:c.820+17569_820+17570insTAA	XP_011535091.1:n.820+17569_820+17570insTAA
XM_011536790.1:c.820+17569_820+17570insTAA	XP_011535092.1:n.820+17569_820+17570insTAA
XM_011536791.1:c.820+17569_820+17570insTAA	XP_011535093.1:n.820+17569_820+17570insTAA
XM_011536792.1:c.-99+125_-99+126insTAA	XP_011535094.1:n.-99+125_-99+126insTAA
XM_005267683.5:c.820+17569_820+17570insTAA	XP_005267740.1:n.820+17569_820+17570insTAA
XM_011536788.3:c.820+17569_820+17570insTAA	XP_011535090.1:n.820+17569_820+17570insTAA
NM_033141.4:c.820+17569_820+17570insTAA	NP_149132.2:n.820+17569_820+17570insTAA
NM_001284230.2:c.820+17569_820+17570insTAA MANE Select	NP_001271159.1:n.820+17569_820+17570insTAA