Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73419788_73419789insCTGGACATATTAAAATG , CM000666.2:g.73419788_73419789insCTGGACATATTAAAATG	GRCh38
NC_000004.11:g.74285505_74285506insCTGGACATATTAAAATG , CM000666.1:g.74285505_74285506insCTGGACATATTAAAATG	GRCh37
NC_000004.10:g.74504369_74504370insCTGGACATATTAAAATG	NCBI36
NG_009291.1:g.20534_20535insCTGGACATATTAAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295897.9:c.1785+149_1785+150insCTGGACATATTAAAATG MANE Select	ENSP00000295897.4:n.1785+149_1785+150insCTGGACATATTAAAATG
ENST00000295897.8:c.1785+149_1785+150insCTGGACATATTAAAATG	ENSP00000295897.4:n.1785+149_1785+150insCTGGACATATTAAAATG
ENST00000401494.7:c.1440+149_1440+150insCTGGACATATTAAAATG	ENSP00000384695.3:n.1440+149_1440+150insCTGGACATATTAAAATG
ENST00000415165.6:c.1209+149_1209+150insCTGGACATATTAAAATG	ENSP00000401820.2:n.1209+149_1209+150insCTGGACATATTAAAATG
ENST00000476441.6:c.1064+149_1064+150insCTGGACATATTAAAATG	ENSP00000423727.1:n.1064+149_1064+150insCTGGACATATTAAAATG
ENST00000495173.1:n.93+149_93+150insCTGGACATATTAAAATG
ENST00000503124.5:c.1335+149_1335+150insCTGGACATATTAAAATG	ENSP00000421027.1:n.1335+149_1335+150insCTGGACATATTAAAATG
ENST00000505649.5:n.1332+149_1332+150insCTGGACATATTAAAATG
ENST00000508932.5:n.175+333_175+334insCTGGACATATTAAAATG
ENST00000509063.5:c.1785+149_1785+150insCTGGACATATTAAAATG	ENSP00000422784.1:n.1785+149_1785+150insCTGGACATATTAAAATG
ENST00000511370.1:c.1318+149_1318+150insCTGGACATATTAAAATG
ENST00000621085.4:c.1146+149_1146+150insCTGGACATATTAAAATG	ENSP00000483421.1:n.1146+149_1146+150insCTGGACATATTAAAATG
ENST00000621628.4:c.1146+149_1146+150insCTGGACATATTAAAATG	ENSP00000480485.1:n.1146+149_1146+150insCTGGACATATTAAAATG
NM_000477.5:c.1785+149_1785+150insCTGGACATATTAAAATG	NP_000468.1:n.1785+149_1785+150insCTGGACATATTAAAATG
NM_000477.6:c.1785+149_1785+150insCTGGACATATTAAAATG	NP_000468.1:n.1785+149_1785+150insCTGGACATATTAAAATG
NM_000477.7:c.1785+149_1785+150insCTGGACATATTAAAATG MANE Select	NP_000468.1:n.1785+149_1785+150insCTGGACATATTAAAATG