Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481954_66481955del , CM000677.2:g.66481954_66481955del	GRCh38
NC_000015.9:g.66774292_66774293del , CM000677.1:g.66774292_66774293del	GRCh37
NC_000015.8:g.64561346_64561347del	NCBI36
NG_008305.1:g.100082_100083del , LRG_725:g.100082_100083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.627+75_627+76del	ENSP00000508681.1:n.627+75_627+76del
ENST00000685172.1:c.693+75_693+76del	ENSP00000509604.1:n.693+75_693+76del
ENST00000685763.1:c.546+75_546+76del	ENSP00000509016.1:n.546+75_546+76del
ENST00000686347.1:c.569-5274_569-5273del	ENSP00000509027.1:n.569-5274_569-5273del
ENST00000687191.1:n.1051+75_1051+76del
ENST00000689951.1:c.744+75_744+76del	ENSP00000509308.1:n.744+75_744+76del
ENST00000691077.1:c.693+75_693+76del	ENSP00000509843.1:n.693+75_693+76del
ENST00000691576.1:c.569-3040_569-3039del	ENSP00000510066.1:n.569-3040_569-3039del
ENST00000691937.1:c.693+75_693+76del	ENSP00000508768.1:n.693+75_693+76del
ENST00000692487.1:c.693+75_693+76del	ENSP00000509534.1:n.693+75_693+76del
ENST00000692683.1:c.627+75_627+76del	ENSP00000508437.1:n.627+75_627+76del
ENST00000693150.1:c.549+75_549+76del	ENSP00000510309.1:n.549+75_549+76del
ENST00000307102.10:c.693+75_693+76del MANE Select	ENSP00000302486.5:n.693+75_693+76del
ENST00000307102.9:c.693+75_693+76del	ENSP00000302486.4:n.693+75_693+76del
ENST00000566326.1:c.165+75_165+76del	ENSP00000456438.1:n.165+75_165+76del
NM_002755.3:c.693+75_693+76del , LRG_725t1:c.693+75_693+76del	NP_002746.1:n.693+75_693+76del
XM_011521783.1:c.627+75_627+76del	XP_011520085.1:n.627+75_627+76del
XM_011521783.3:c.627+75_627+76del	XP_011520085.1:n.627+75_627+76del
XM_017022411.2:c.615+75_615+76del	XP_016877900.1:n.615+75_615+76del
XM_017022412.1:c.549+75_549+76del	XP_016877901.1:n.549+75_549+76del
XM_017022413.1:c.165+75_165+76del	XP_016877902.1:n.165+75_165+76del
NM_002755.4:c.693+75_693+76del MANE Select	NP_002746.1:n.693+75_693+76del