Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119573_113119577delinsGCACA , CM000675.2:g.113119573_113119577delinsGCACA	GRCh38
NC_000013.10:g.113773887_113773891delinsGCACA , CM000675.1:g.113773887_113773891delinsGCACA	GRCh37
NC_000013.9:g.112821888_112821892delinsGCACA	NCBI36
NG_009258.1:g.1775_1779delinsGCACA , LRG_548:g.1775_1779delinsGCACA
NG_009262.1:g.18783_18787delinsGCACA , LRG_554:g.18783_18787delinsGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.565_569delinsGCACA MANE Select	ENSP00000329546.4:n.565_569delinsGCACA
ENST00000346342.7:c.565_569delinsGCACA	ENSP00000329546.3:n.565_569delinsGCACA
ENST00000375581.3:c.565_569delinsGCACA	ENSP00000364731.3:n.565_569delinsGCACA
ENST00000541084.5:c.565_569delinsGCACA	ENSP00000442051.2:n.565_569delinsGCACA
NM_000131.4:c.565_569delinsGCACA , LRG_554t1:c.565_569delinsGCACA	NP_000122.1:n.565_569delinsGCACA
NM_001267554.1:c.565_569delinsGCACA	NP_001254483.1:n.565_569delinsGCACA
NM_019616.3:c.565_569delinsGCACA , LRG_554t2:c.565_569delinsGCACA	NP_062562.1:n.565_569delinsGCACA
NR_051961.1:n.1987_1991delinsGCACA
XM_006719963.2:c.565_569delinsGCACA	XP_006720026.1:n.565_569delinsGCACA
XM_011537474.1:c.565_569delinsGCACA	XP_011535776.1:n.565_569delinsGCACA
XM_011537475.1:c.565_569delinsGCACA	XP_011535777.1:n.565_569delinsGCACA
XM_011537476.1:c.565_569delinsGCACA	XP_011535778.1:n.565_569delinsGCACA
XM_011537477.1:c.565_569delinsGCACA	XP_011535779.1:n.565_569delinsGCACA
XM_006719963.3:c.565_569delinsGCACA	XP_006720026.2:n.565_569delinsGCACA
XM_011537474.2:c.565_569delinsGCACA	XP_011535776.2:n.565_569delinsGCACA
XM_011537475.2:c.565_569delinsGCACA	XP_011535777.2:n.565_569delinsGCACA
XM_011537476.2:c.565_569delinsGCACA	XP_011535778.1:n.565_569delinsGCACA
NM_019616.4:c.565_569delinsGCACA MANE Select	NP_062562.1:n.565_569delinsGCACA
NR_051961.2:n.1984_1988delinsGCACA
NM_001267554.2:c.565_569delinsGCACA	NP_001254483.1:n.565_569delinsGCACA

HGVS	Amino-acid Change
ENST00000346342.8:c.565_569delinsGCACA MANE Select	ENSP00000329546.4:n.565_569delinsGCACA
ENST00000346342.7:c.565_569delinsGCACA	ENSP00000329546.3:n.565_569delinsGCACA
ENST00000375581.3:c.565_569delinsGCACA	ENSP00000364731.3:n.565_569delinsGCACA
ENST00000541084.5:c.565_569delinsGCACA	ENSP00000442051.2:n.565_569delinsGCACA
NM_000131.4:c.565_569delinsGCACA , LRG_554t1:c.565_569delinsGCACA	NP_000122.1:n.565_569delinsGCACA
NM_001267554.1:c.565_569delinsGCACA	NP_001254483.1:n.565_569delinsGCACA
NM_019616.3:c.565_569delinsGCACA , LRG_554t2:c.565_569delinsGCACA	NP_062562.1:n.565_569delinsGCACA
NR_051961.1:n.1987_1991delinsGCACA
XM_006719963.2:c.565_569delinsGCACA	XP_006720026.1:n.565_569delinsGCACA
XM_011537474.1:c.565_569delinsGCACA	XP_011535776.1:n.565_569delinsGCACA
XM_011537475.1:c.565_569delinsGCACA	XP_011535777.1:n.565_569delinsGCACA
XM_011537476.1:c.565_569delinsGCACA	XP_011535778.1:n.565_569delinsGCACA
XM_011537477.1:c.565_569delinsGCACA	XP_011535779.1:n.565_569delinsGCACA
XM_006719963.3:c.565_569delinsGCACA	XP_006720026.2:n.565_569delinsGCACA
XM_011537474.2:c.565_569delinsGCACA	XP_011535776.2:n.565_569delinsGCACA
XM_011537475.2:c.565_569delinsGCACA	XP_011535777.2:n.565_569delinsGCACA
XM_011537476.2:c.565_569delinsGCACA	XP_011535778.1:n.565_569delinsGCACA
NM_019616.4:c.565_569delinsGCACA MANE Select	NP_062562.1:n.565_569delinsGCACA
NR_051961.2:n.1984_1988delinsGCACA
NM_001267554.2:c.565_569delinsGCACA	NP_001254483.1:n.565_569delinsGCACA