Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743775_123743776insTGTTTTGTTTTTTTTTG , CM000674.2:g.123743775_123743776insTGTTTTGTTTTTTTTTG	GRCh38
NC_000012.11:g.124228322_124228323insTGTTTTGTTTTTTTTTG , CM000674.1:g.124228322_124228323insTGTTTTGTTTTTTTTTG	GRCh37
NC_000012.10:g.122794275_122794276insTGTTTTGTTTTTTTTTG	NCBI36
NG_012743.1:g.36458_36459insTGTTTTGTTTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG MANE Select	ENSP00000332247.2:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG
ENST00000540368.6:n.1070-10_1070-9insTGTTTTGTTTTTTTTTG
ENST00000674794.1:c.1127-10_1127-9insTGTTTTGTTTTTTTTTG
ENST00000675260.1:n.304_305insTGTTTTGTTTTTTTTTG
ENST00000675344.1:c.60-10_60-9insTGTTTTGTTTTTTTTTG	ENSP00000501953.1:n.60-10_60-9insTGTTTTGTTTTTTTTTG
ENST00000330342.7:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG	ENSP00000332247.2:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG
ENST00000504192.2:c.649-10_649-9insTGTTTTGTTTTTTTTTG	ENSP00000443441.1:n.649-10_649-9insTGTTTTGTTTTTTTTTG
ENST00000536426.1:n.56-10_56-9insTGTTTTGTTTTTTTTTG
ENST00000545059.5:n.3675-10_3675-9insTGTTTTGTTTTTTTTTG
NM_012463.3:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG	NP_036595.2:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG
XM_005253563.1:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG	XP_005253620.1:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG
XM_006719317.2:c.526-10_526-9insTGTTTTGTTTTTTTTTG	XP_006719380.1:n.526-10_526-9insTGTTTTGTTTTTTTTTG
XM_006719318.2:c.217-10_217-9insTGTTTTGTTTTTTTTTG	XP_006719381.1:n.217-10_217-9insTGTTTTGTTTTTTTTTG
XR_429088.1:n.1202-10_1202-9insTGTTTTGTTTTTTTTTG
XM_024448910.1:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG	XP_024304678.1:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG
XM_024448911.1:c.526-10_526-9insTGTTTTGTTTTTTTTTG	XP_024304679.1:n.526-10_526-9insTGTTTTGTTTTTTTTTG
XM_024448912.1:c.217-10_217-9insTGTTTTGTTTTTTTTTG	XP_024304680.1:n.217-10_217-9insTGTTTTGTTTTTTTTTG
NM_012463.4:c.1039-10_1039-9insTGTTTTGTTTTTTTTTG MANE Select	NP_036595.2:n.1039-10_1039-9insTGTTTTGTTTTTTTTTG