Allele Registry

HGVS	Genome Assembly
NC_000015.10:g.48468612_48468613insCTCGAGTTGGCTGTGT , CM000677.2:g.48468612_48468613insCTCGAGTTGGCTGTGT	GRCh38
NC_000015.9:g.48760809_48760810insCTCGAGTTGGCTGTGT , CM000677.1:g.48760809_48760810insCTCGAGTTGGCTGTGT	GRCh37
NC_000015.8:g.46548101_46548102insCTCGAGTTGGCTGTGT	NCBI36
NG_008805.2:g.182176_182177insACACAGCCAACTCGAG , LRG_778:g.182176_182177insACACAGCCAACTCGAG

HGVS	Amino-acid Change
ENST00000559133.6:c.4460-79_4460-78insACACAGCCAACTCGAG	ENSP00000453958.2:n.4460-79_4460-78insACACAGCCAACTCGAG
ENST00000674301.2:c.4460-79_4460-78insACACAGCCAACTCGAG	ENSP00000501333.2:n.4460-79_4460-78insACACAGCCAACTCGAG
ENST00000684448.1:n.3134-79_3134-78insACACAGCCAACTCGAG
ENST00000316623.10:c.4460-79_4460-78insACACAGCCAACTCGAG MANE Select	ENSP00000325527.5:n.4460-79_4460-78insACACAGCCAACTCGAG
ENST00000316623.9:c.4460-79_4460-78insACACAGCCAACTCGAG	ENSP00000325527.5:n.4460-79_4460-78insACACAGCCAACTCGAG
ENST00000537463.6:c.223-79_223-78insACACAGCCAACTCGAG	ENSP00000440294.2:n.223-79_223-78insACACAGCCAACTCGAG
NM_000138.4:c.4460-79_4460-78insACACAGCCAACTCGAG , LRG_778t1:c.4460-79_4460-78insACACAGCCAACTCGAG	NP_000129.3:n.4460-79_4460-78insACACAGCCAACTCGAG
NM_000138.5:c.4460-79_4460-78insACACAGCCAACTCGAG MANE Select	NP_000129.3:n.4460-79_4460-78insACACAGCCAACTCGAG