Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11101924_11101925delinsTA , CM000681.2:g.11101924_11101925delinsTA	GRCh38
NC_000019.9:g.11212600_11212601delinsTA , CM000681.1:g.11212600_11212601delinsTA	GRCh37
NC_000019.8:g.11073600_11073601delinsTA	NCBI36
NG_009060.1:g.17544_17545delinsTA , LRG_274:g.17544_17545delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-740_449-739delinsTA	ENSP00000252444.6:n.449-740_449-739delinsTA
ENST00000559340.2:c.191-740_191-739delinsTA	ENSP00000453696.2:n.191-740_191-739delinsTA
ENST00000560467.2:c.191-740_191-739delinsTA	ENSP00000453513.2:n.191-740_191-739delinsTA
ENST00000558518.6:c.191-740_191-739delinsTA MANE Select	ENSP00000454071.1:n.191-740_191-739delinsTA
ENST00000252444.9:c.445-740_445-739delinsTA
ENST00000455727.6:c.191-740_191-739delinsTA	ENSP00000397829.2:n.191-740_191-739delinsTA
ENST00000535915.5:c.190+1579_190+1580delinsTA	ENSP00000440520.1:n.190+1579_190+1580delinsTA
ENST00000545707.5:c.191-740_191-739delinsTA	ENSP00000437639.1:n.191-740_191-739delinsTA
ENST00000557933.5:c.191-740_191-739delinsTA	ENSP00000453557.1:n.191-740_191-739delinsTA
ENST00000557958.1:n.277-740_277-739delinsTA
ENST00000558013.5:c.191-740_191-739delinsTA	ENSP00000453346.1:n.191-740_191-739delinsTA
ENST00000558518.5:c.191-740_191-739delinsTA	ENSP00000454071.1:n.191-740_191-739delinsTA
NM_000527.4:c.191-740_191-739delinsTA , LRG_274t1:c.191-740_191-739delinsTA	NP_000518.1:n.191-740_191-739delinsTA
NM_001195798.1:c.191-740_191-739delinsTA	NP_001182727.1:n.191-740_191-739delinsTA
NM_001195799.1:c.190+1579_190+1580delinsTA	NP_001182728.1:n.190+1579_190+1580delinsTA
NM_001195800.1:c.191-740_191-739delinsTA	NP_001182729.1:n.191-740_191-739delinsTA
NM_001195803.1:c.191-740_191-739delinsTA	NP_001182732.1:n.191-740_191-739delinsTA
XM_011528010.1:c.191-740_191-739delinsTA	XP_011526312.1:n.191-740_191-739delinsTA
XM_011528011.1:c.191-740_191-739delinsTA	XP_011526313.1:n.191-740_191-739delinsTA
XR_244074.2:n.341-740_341-739delinsTA
XM_011528010.2:c.191-740_191-739delinsTA	XP_011526312.1:n.191-740_191-739delinsTA
XR_001753685.2:n.308-740_308-739delinsTA
XR_001753686.2:n.308-740_308-739delinsTA
NM_000527.5:c.191-740_191-739delinsTA MANE Select	NP_000518.1:n.191-740_191-739delinsTA
NM_001195798.2:c.191-740_191-739delinsTA	NP_001182727.1:n.191-740_191-739delinsTA
NM_001195799.2:c.190+1579_190+1580delinsTA	NP_001182728.1:n.190+1579_190+1580delinsTA
NM_001195800.2:c.191-740_191-739delinsTA	NP_001182729.1:n.191-740_191-739delinsTA
NM_001195803.2:c.191-740_191-739delinsTA	NP_001182732.1:n.191-740_191-739delinsTA