Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119484_113119490delinsCACACAG , CM000675.2:g.113119484_113119490delinsCACACAG	GRCh38
NC_000013.10:g.113773798_113773804delinsCACACAG , CM000675.1:g.113773798_113773804delinsCACACAG	GRCh37
NC_000013.9:g.112821799_112821805delinsCACACAG	NCBI36
NG_009258.1:g.1686_1692delinsCACACAG , LRG_548:g.1686_1692delinsCACACAG
NG_009262.1:g.18694_18700delinsCACACAG , LRG_554:g.18694_18700delinsCACACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.476_482delinsCACACAG MANE Select	ENSP00000329546.4:n.476_482delinsCACACAG
ENST00000346342.7:c.476_482delinsCACACAG	ENSP00000329546.3:n.476_482delinsCACACAG
ENST00000375581.3:c.476_482delinsCACACAG	ENSP00000364731.3:n.476_482delinsCACACAG
ENST00000541084.5:c.476_482delinsCACACAG	ENSP00000442051.2:n.476_482delinsCACACAG
NM_000131.4:c.476_482delinsCACACAG , LRG_554t1:c.476_482delinsCACACAG	NP_000122.1:n.476_482delinsCACACAG
NM_001267554.1:c.476_482delinsCACACAG	NP_001254483.1:n.476_482delinsCACACAG
NM_019616.3:c.476_482delinsCACACAG , LRG_554t2:c.476_482delinsCACACAG	NP_062562.1:n.476_482delinsCACACAG
NR_051961.1:n.1898_1904delinsCACACAG
XM_006719963.2:c.476_482delinsCACACAG	XP_006720026.1:n.476_482delinsCACACAG
XM_011537474.1:c.476_482delinsCACACAG	XP_011535776.1:n.476_482delinsCACACAG
XM_011537475.1:c.476_482delinsCACACAG	XP_011535777.1:n.476_482delinsCACACAG
XM_011537476.1:c.476_482delinsCACACAG	XP_011535778.1:n.476_482delinsCACACAG
XM_011537477.1:c.476_482delinsCACACAG	XP_011535779.1:n.476_482delinsCACACAG
XM_006719963.3:c.476_482delinsCACACAG	XP_006720026.2:n.476_482delinsCACACAG
XM_011537474.2:c.476_482delinsCACACAG	XP_011535776.2:n.476_482delinsCACACAG
XM_011537475.2:c.476_482delinsCACACAG	XP_011535777.2:n.476_482delinsCACACAG
XM_011537476.2:c.476_482delinsCACACAG	XP_011535778.1:n.476_482delinsCACACAG
NM_019616.4:c.476_482delinsCACACAG MANE Select	NP_062562.1:n.476_482delinsCACACAG
NR_051961.2:n.1895_1901delinsCACACAG
NM_001267554.2:c.476_482delinsCACACAG	NP_001254483.1:n.476_482delinsCACACAG

HGVS	Amino-acid Change
ENST00000346342.8:c.476_482delinsCACACAG MANE Select	ENSP00000329546.4:n.476_482delinsCACACAG
ENST00000346342.7:c.476_482delinsCACACAG	ENSP00000329546.3:n.476_482delinsCACACAG
ENST00000375581.3:c.476_482delinsCACACAG	ENSP00000364731.3:n.476_482delinsCACACAG
ENST00000541084.5:c.476_482delinsCACACAG	ENSP00000442051.2:n.476_482delinsCACACAG
NM_000131.4:c.476_482delinsCACACAG , LRG_554t1:c.476_482delinsCACACAG	NP_000122.1:n.476_482delinsCACACAG
NM_001267554.1:c.476_482delinsCACACAG	NP_001254483.1:n.476_482delinsCACACAG
NM_019616.3:c.476_482delinsCACACAG , LRG_554t2:c.476_482delinsCACACAG	NP_062562.1:n.476_482delinsCACACAG
NR_051961.1:n.1898_1904delinsCACACAG
XM_006719963.2:c.476_482delinsCACACAG	XP_006720026.1:n.476_482delinsCACACAG
XM_011537474.1:c.476_482delinsCACACAG	XP_011535776.1:n.476_482delinsCACACAG
XM_011537475.1:c.476_482delinsCACACAG	XP_011535777.1:n.476_482delinsCACACAG
XM_011537476.1:c.476_482delinsCACACAG	XP_011535778.1:n.476_482delinsCACACAG
XM_011537477.1:c.476_482delinsCACACAG	XP_011535779.1:n.476_482delinsCACACAG
XM_006719963.3:c.476_482delinsCACACAG	XP_006720026.2:n.476_482delinsCACACAG
XM_011537474.2:c.476_482delinsCACACAG	XP_011535776.2:n.476_482delinsCACACAG
XM_011537475.2:c.476_482delinsCACACAG	XP_011535777.2:n.476_482delinsCACACAG
XM_011537476.2:c.476_482delinsCACACAG	XP_011535778.1:n.476_482delinsCACACAG
NM_019616.4:c.476_482delinsCACACAG MANE Select	NP_062562.1:n.476_482delinsCACACAG
NR_051961.2:n.1895_1901delinsCACACAG
NM_001267554.2:c.476_482delinsCACACAG	NP_001254483.1:n.476_482delinsCACACAG