Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102032_11102046delinsTGGCTAACACGGTGA , CM000681.2:g.11102032_11102046delinsTGGCTAACACGGTGA	GRCh38
NC_000019.9:g.11212708_11212722delinsTGGCTAACACGGTGA , CM000681.1:g.11212708_11212722delinsTGGCTAACACGGTGA	GRCh37
NC_000019.8:g.11073708_11073722delinsTGGCTAACACGGTGA	NCBI36
NG_009060.1:g.17652_17666delinsTGGCTAACACGGTGA , LRG_274:g.17652_17666delinsTGGCTAACACGGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-632_449-618delinsTGGCTAACACGGTGA	ENSP00000252444.6:n.449-632_449-618delinsTGGCTAACACGGTGA
ENST00000559340.2:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000453696.2:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000560467.2:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000453513.2:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000558518.6:c.191-632_191-618delinsTGGCTAACACGGTGA MANE Select	ENSP00000454071.1:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000252444.9:c.445-632_445-618delinsTGGCTAACACGGTGA
ENST00000455727.6:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000397829.2:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000535915.5:c.190+1687_190+1701delinsTGGCTAACACGGTGA	ENSP00000440520.1:n.190+1687_190+1701delinsTGGCTAACACGGTGA
ENST00000545707.5:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000437639.1:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000557933.5:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000453557.1:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000557958.1:n.277-632_277-618delinsTGGCTAACACGGTGA
ENST00000558013.5:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000453346.1:n.191-632_191-618delinsTGGCTAACACGGTGA
ENST00000558518.5:c.191-632_191-618delinsTGGCTAACACGGTGA	ENSP00000454071.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_000527.4:c.191-632_191-618delinsTGGCTAACACGGTGA , LRG_274t1:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_000518.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195798.1:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182727.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195799.1:c.190+1687_190+1701delinsTGGCTAACACGGTGA	NP_001182728.1:n.190+1687_190+1701delinsTGGCTAACACGGTGA
NM_001195800.1:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182729.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195803.1:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182732.1:n.191-632_191-618delinsTGGCTAACACGGTGA
XM_011528010.1:c.191-632_191-618delinsTGGCTAACACGGTGA	XP_011526312.1:n.191-632_191-618delinsTGGCTAACACGGTGA
XM_011528011.1:c.191-632_191-618delinsTGGCTAACACGGTGA	XP_011526313.1:n.191-632_191-618delinsTGGCTAACACGGTGA
XR_244074.2:n.341-632_341-618delinsTGGCTAACACGGTGA
XM_011528010.2:c.191-632_191-618delinsTGGCTAACACGGTGA	XP_011526312.1:n.191-632_191-618delinsTGGCTAACACGGTGA
XR_001753685.2:n.308-632_308-618delinsTGGCTAACACGGTGA
XR_001753686.2:n.308-632_308-618delinsTGGCTAACACGGTGA
NM_000527.5:c.191-632_191-618delinsTGGCTAACACGGTGA MANE Select	NP_000518.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195798.2:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182727.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195799.2:c.190+1687_190+1701delinsTGGCTAACACGGTGA	NP_001182728.1:n.190+1687_190+1701delinsTGGCTAACACGGTGA
NM_001195800.2:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182729.1:n.191-632_191-618delinsTGGCTAACACGGTGA
NM_001195803.2:c.191-632_191-618delinsTGGCTAACACGGTGA	NP_001182732.1:n.191-632_191-618delinsTGGCTAACACGGTGA