Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149717_99149718insAAAG , CM000671.2:g.99149717_99149718insAAAG	GRCh38
NC_000009.11:g.101911999_101912000insAAAG , CM000671.1:g.101911999_101912000insAAAG	GRCh37
NC_000009.10:g.100951820_100951821insAAAG	NCBI36
NG_007461.1:g.49588_49589insAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.412_413insAAAG	ENSP00000449934.2:n.412_413insAAAG
ENST00000552573.7:c.412_413insAAAG	ENSP00000447182.3:n.412_413insAAAG
ENST00000698941.1:c.412_413insAAAG	ENSP00000514048.1:n.412_413insAAAG
ENST00000698943.1:n.1491_1492insAAAG
ENST00000374994.9:c.412_413insAAAG MANE Select	ENSP00000364133.4:n.412_413insAAAG
ENST00000374990.6:c.412_413insAAAG	ENSP00000364129.2:n.412_413insAAAG
ENST00000374994.8:c.412_413insAAAG	ENSP00000364133.4:n.412_413insAAAG
ENST00000552516.5:c.412_413insAAAG	ENSP00000447297.1:n.412_413insAAAG
NM_001130916.1:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001130916.2:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001306210.1:c.412_413insAAAG	NP_001293139.1:n.412_413insAAAG
NM_004612.2:c.412_413insAAAG	NP_004603.1:n.412_413insAAAG
NM_004612.3:c.412_413insAAAG	NP_004603.1:n.412_413insAAAG
XM_011518948.1:c.412_413insAAAG	XP_011517250.1:n.412_413insAAAG
XM_011518949.1:c.412_413insAAAG	XP_011517251.1:n.412_413insAAAG
XM_011518950.1:c.412_413insAAAG	XP_011517252.1:n.412_413insAAAG
XM_011518948.2:c.412_413insAAAG	XP_011517250.1:n.412_413insAAAG
XM_011518949.2:c.412_413insAAAG	XP_011517251.1:n.412_413insAAAG
XM_011518950.2:c.412_413insAAAG	XP_011517252.1:n.412_413insAAAG
XM_017015063.1:c.412_413insAAAG	XP_016870552.1:n.412_413insAAAG
XM_024447658.1:c.412_413insAAAG	XP_024303426.1:n.412_413insAAAG
NM_004612.4:c.412_413insAAAG MANE Select	NP_004603.1:n.412_413insAAAG
NM_001130916.3:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001306210.2:c.412_413insAAAG	NP_001293139.1:n.412_413insAAAG

HGVS	Amino-acid Change
ENST00000547314.6:c.412_413insAAAG	ENSP00000449934.2:n.412_413insAAAG
ENST00000552573.7:c.412_413insAAAG	ENSP00000447182.3:n.412_413insAAAG
ENST00000698941.1:c.412_413insAAAG	ENSP00000514048.1:n.412_413insAAAG
ENST00000698943.1:n.1491_1492insAAAG
ENST00000374994.9:c.412_413insAAAG MANE Select	ENSP00000364133.4:n.412_413insAAAG
ENST00000374990.6:c.412_413insAAAG	ENSP00000364129.2:n.412_413insAAAG
ENST00000374994.8:c.412_413insAAAG	ENSP00000364133.4:n.412_413insAAAG
ENST00000552516.5:c.412_413insAAAG	ENSP00000447297.1:n.412_413insAAAG
NM_001130916.1:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001130916.2:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001306210.1:c.412_413insAAAG	NP_001293139.1:n.412_413insAAAG
NM_004612.2:c.412_413insAAAG	NP_004603.1:n.412_413insAAAG
NM_004612.3:c.412_413insAAAG	NP_004603.1:n.412_413insAAAG
XM_011518948.1:c.412_413insAAAG	XP_011517250.1:n.412_413insAAAG
XM_011518949.1:c.412_413insAAAG	XP_011517251.1:n.412_413insAAAG
XM_011518950.1:c.412_413insAAAG	XP_011517252.1:n.412_413insAAAG
XM_011518948.2:c.412_413insAAAG	XP_011517250.1:n.412_413insAAAG
XM_011518949.2:c.412_413insAAAG	XP_011517251.1:n.412_413insAAAG
XM_011518950.2:c.412_413insAAAG	XP_011517252.1:n.412_413insAAAG
XM_017015063.1:c.412_413insAAAG	XP_016870552.1:n.412_413insAAAG
XM_024447658.1:c.412_413insAAAG	XP_024303426.1:n.412_413insAAAG
NM_004612.4:c.412_413insAAAG MANE Select	NP_004603.1:n.412_413insAAAG
NM_001130916.3:c.412_413insAAAG	NP_001124388.1:n.412_413insAAAG
NM_001306210.2:c.412_413insAAAG	NP_001293139.1:n.412_413insAAAG