Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119152_113119156delinsCAGAG , CM000675.2:g.113119152_113119156delinsCAGAG	GRCh38
NC_000013.10:g.113773466_113773470delinsCAGAG , CM000675.1:g.113773466_113773470delinsCAGAG	GRCh37
NC_000013.9:g.112821467_112821471delinsCAGAG	NCBI36
NG_009258.1:g.1354_1358delinsCAGAG , LRG_548:g.1354_1358delinsCAGAG
NG_009262.1:g.18362_18366delinsCAGAG , LRG_554:g.18362_18366delinsCAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.144_148delinsCAGAG MANE Select	ENSP00000329546.4:n.144_148delinsCAGAG
ENST00000346342.7:c.144_148delinsCAGAG	ENSP00000329546.3:n.144_148delinsCAGAG
ENST00000375581.3:c.144_148delinsCAGAG	ENSP00000364731.3:n.144_148delinsCAGAG
ENST00000541084.5:c.144_148delinsCAGAG	ENSP00000442051.2:n.144_148delinsCAGAG
NM_000131.4:c.144_148delinsCAGAG , LRG_554t1:c.144_148delinsCAGAG	NP_000122.1:n.144_148delinsCAGAG
NM_001267554.1:c.144_148delinsCAGAG	NP_001254483.1:n.144_148delinsCAGAG
NM_019616.3:c.144_148delinsCAGAG , LRG_554t2:c.144_148delinsCAGAG	NP_062562.1:n.144_148delinsCAGAG
NR_051961.1:n.1566_1570delinsCAGAG
XM_006719963.2:c.144_148delinsCAGAG	XP_006720026.1:n.144_148delinsCAGAG
XM_011537474.1:c.144_148delinsCAGAG	XP_011535776.1:n.144_148delinsCAGAG
XM_011537475.1:c.144_148delinsCAGAG	XP_011535777.1:n.144_148delinsCAGAG
XM_011537476.1:c.144_148delinsCAGAG	XP_011535778.1:n.144_148delinsCAGAG
XM_011537477.1:c.144_148delinsCAGAG	XP_011535779.1:n.144_148delinsCAGAG
XM_006719963.3:c.144_148delinsCAGAG	XP_006720026.2:n.144_148delinsCAGAG
XM_011537474.2:c.144_148delinsCAGAG	XP_011535776.2:n.144_148delinsCAGAG
XM_011537475.2:c.144_148delinsCAGAG	XP_011535777.2:n.144_148delinsCAGAG
XM_011537476.2:c.144_148delinsCAGAG	XP_011535778.1:n.144_148delinsCAGAG
NM_019616.4:c.144_148delinsCAGAG MANE Select	NP_062562.1:n.144_148delinsCAGAG
NR_051961.2:n.1563_1567delinsCAGAG
NM_001267554.2:c.144_148delinsCAGAG	NP_001254483.1:n.144_148delinsCAGAG

HGVS	Amino-acid Change
ENST00000346342.8:c.144_148delinsCAGAG MANE Select	ENSP00000329546.4:n.144_148delinsCAGAG
ENST00000346342.7:c.144_148delinsCAGAG	ENSP00000329546.3:n.144_148delinsCAGAG
ENST00000375581.3:c.144_148delinsCAGAG	ENSP00000364731.3:n.144_148delinsCAGAG
ENST00000541084.5:c.144_148delinsCAGAG	ENSP00000442051.2:n.144_148delinsCAGAG
NM_000131.4:c.144_148delinsCAGAG , LRG_554t1:c.144_148delinsCAGAG	NP_000122.1:n.144_148delinsCAGAG
NM_001267554.1:c.144_148delinsCAGAG	NP_001254483.1:n.144_148delinsCAGAG
NM_019616.3:c.144_148delinsCAGAG , LRG_554t2:c.144_148delinsCAGAG	NP_062562.1:n.144_148delinsCAGAG
NR_051961.1:n.1566_1570delinsCAGAG
XM_006719963.2:c.144_148delinsCAGAG	XP_006720026.1:n.144_148delinsCAGAG
XM_011537474.1:c.144_148delinsCAGAG	XP_011535776.1:n.144_148delinsCAGAG
XM_011537475.1:c.144_148delinsCAGAG	XP_011535777.1:n.144_148delinsCAGAG
XM_011537476.1:c.144_148delinsCAGAG	XP_011535778.1:n.144_148delinsCAGAG
XM_011537477.1:c.144_148delinsCAGAG	XP_011535779.1:n.144_148delinsCAGAG
XM_006719963.3:c.144_148delinsCAGAG	XP_006720026.2:n.144_148delinsCAGAG
XM_011537474.2:c.144_148delinsCAGAG	XP_011535776.2:n.144_148delinsCAGAG
XM_011537475.2:c.144_148delinsCAGAG	XP_011535777.2:n.144_148delinsCAGAG
XM_011537476.2:c.144_148delinsCAGAG	XP_011535778.1:n.144_148delinsCAGAG
NM_019616.4:c.144_148delinsCAGAG MANE Select	NP_062562.1:n.144_148delinsCAGAG
NR_051961.2:n.1563_1567delinsCAGAG
NM_001267554.2:c.144_148delinsCAGAG	NP_001254483.1:n.144_148delinsCAGAG