Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191099798_191099799delinsTA , CM000664.2:g.191099798_191099799delinsTA	GRCh38
NC_000002.11:g.191964524_191964525delinsTA , CM000664.1:g.191964524_191964525delinsTA	GRCh37
NC_000002.10:g.191672769_191672770delinsTA	NCBI36
NG_012852.1:g.56401_56402delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392320.7:c.274-23474_274-23473delinsTA MANE Select	ENSP00000376134.2:n.274-23474_274-23473delinsTA
ENST00000647167.1:c.274-23474_274-23473delinsTA	ENSP00000495153.1:n.274-23474_274-23473delinsTA
ENST00000358470.8:c.274-23474_274-23473delinsTA	ENSP00000351255.4:n.274-23474_274-23473delinsTA
ENST00000392320.6:c.274-23474_274-23473delinsTA	ENSP00000376134.2:n.274-23474_274-23473delinsTA
ENST00000413064.5:c.193-23474_193-23473delinsTA	ENSP00000403238.1:n.193-23474_193-23473delinsTA
ENST00000495326.1:n.344-23474_344-23473delinsTA
ENST00000495849.5:n.342-23474_342-23473delinsTA
NM_001243835.1:c.274-23474_274-23473delinsTA	NP_001230764.1:n.274-23474_274-23473delinsTA
NM_003151.3:c.274-23474_274-23473delinsTA	NP_003142.1:n.274-23474_274-23473delinsTA
XM_005246817.3:c.301-23474_301-23473delinsTA	XP_005246874.1:n.301-23474_301-23473delinsTA
XM_006712719.2:c.274-23474_274-23473delinsTA	XP_006712782.1:n.274-23474_274-23473delinsTA
XM_011511704.1:c.301-23474_301-23473delinsTA	XP_011510006.1:n.301-23474_301-23473delinsTA
XM_011511705.1:c.274-23474_274-23473delinsTA	XP_011510007.1:n.274-23474_274-23473delinsTA
XM_011511706.1:c.301-23474_301-23473delinsTA	XP_011510008.1:n.301-23474_301-23473delinsTA
XM_006712719.3:c.274-23474_274-23473delinsTA	XP_006712782.1:n.274-23474_274-23473delinsTA
XM_011511705.2:c.274-23474_274-23473delinsTA	XP_011510007.1:n.274-23474_274-23473delinsTA
XM_017004784.2:c.274-23474_274-23473delinsTA	XP_016860273.1:n.274-23474_274-23473delinsTA
NM_003151.4:c.274-23474_274-23473delinsTA MANE Select	NP_003142.1:n.274-23474_274-23473delinsTA
NM_001243835.2:c.274-23474_274-23473delinsTA	NP_001230764.1:n.274-23474_274-23473delinsTA