Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481915_66481920del , CM000677.2:g.66481915_66481920del	GRCh38
NC_000015.9:g.66774253_66774258del , CM000677.1:g.66774253_66774258del	GRCh37
NC_000015.8:g.64561307_64561312del	NCBI36
NG_008305.1:g.100043_100048del , LRG_725:g.100043_100048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.627+36_627+41del	ENSP00000508681.1:n.627+36_627+41del
ENST00000685172.1:c.693+36_693+41del	ENSP00000509604.1:n.693+36_693+41del
ENST00000685763.1:c.546+36_546+41del	ENSP00000509016.1:n.546+36_546+41del
ENST00000686347.1:c.569-5313_569-5308del	ENSP00000509027.1:n.569-5313_569-5308del
ENST00000687191.1:n.1051+36_1051+41del
ENST00000689951.1:c.744+36_744+41del	ENSP00000509308.1:n.744+36_744+41del
ENST00000691077.1:c.693+36_693+41del	ENSP00000509843.1:n.693+36_693+41del
ENST00000691576.1:c.569-3079_569-3074del	ENSP00000510066.1:n.569-3079_569-3074del
ENST00000691937.1:c.693+36_693+41del	ENSP00000508768.1:n.693+36_693+41del
ENST00000692487.1:c.693+36_693+41del	ENSP00000509534.1:n.693+36_693+41del
ENST00000692683.1:c.627+36_627+41del	ENSP00000508437.1:n.627+36_627+41del
ENST00000693150.1:c.549+36_549+41del	ENSP00000510309.1:n.549+36_549+41del
ENST00000307102.10:c.693+36_693+41del MANE Select	ENSP00000302486.5:n.693+36_693+41del
ENST00000307102.9:c.693+36_693+41del	ENSP00000302486.4:n.693+36_693+41del
ENST00000566326.1:c.165+36_165+41del	ENSP00000456438.1:n.165+36_165+41del
NM_002755.3:c.693+36_693+41del , LRG_725t1:c.693+36_693+41del	NP_002746.1:n.693+36_693+41del
XM_011521783.1:c.627+36_627+41del	XP_011520085.1:n.627+36_627+41del
XM_011521783.3:c.627+36_627+41del	XP_011520085.1:n.627+36_627+41del
XM_017022411.2:c.615+36_615+41del	XP_016877900.1:n.615+36_615+41del
XM_017022412.1:c.549+36_549+41del	XP_016877901.1:n.549+36_549+41del
XM_017022413.1:c.165+36_165+41del	XP_016877902.1:n.165+36_165+41del
NM_002755.4:c.693+36_693+41del MANE Select	NP_002746.1:n.693+36_693+41del