Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107689325_107689326insGTGTG , CM000669.2:g.107689325_107689326insGTGTG	GRCh38
NC_000007.13:g.107329770_107329771insGTGTG , CM000669.1:g.107329770_107329771insGTGTG	GRCh37
NC_000007.12:g.107117006_107117007insGTGTG	NCBI36
NG_008489.1:g.33691_33692insGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1149+125_1149+126insGTGTG MANE Select	ENSP00000494017.1:n.1149+125_1149+126insGTGTG
ENST00000265715.7:c.1149+125_1149+126insGTGTG	ENSP00000265715.3:n.1149+125_1149+126insGTGTG
NM_000441.1:c.1149+125_1149+126insGTGTG	NP_000432.1:n.1149+125_1149+126insGTGTG
XM_005250425.1:c.1149+125_1149+126insGTGTG	XP_005250482.1:n.1149+125_1149+126insGTGTG
XM_006716025.2:c.1149+125_1149+126insGTGTG	XP_006716088.1:n.1149+125_1149+126insGTGTG
XM_005250425.2:c.1149+125_1149+126insGTGTG	XP_005250482.1:n.1149+125_1149+126insGTGTG
XM_006716025.3:c.1149+125_1149+126insGTGTG	XP_006716088.1:n.1149+125_1149+126insGTGTG
XM_017012318.1:c.1149+125_1149+126insGTGTG	XP_016867807.1:n.1149+125_1149+126insGTGTG
NM_000441.2:c.1149+125_1149+126insGTGTG MANE Select	NP_000432.1:n.1149+125_1149+126insGTGTG