Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960887_65960889delinsTCA , CM000669.2:g.65960887_65960889delinsTCA	GRCh38
NC_000007.13:g.65425874_65425876delinsTCA , CM000669.1:g.65425874_65425876delinsTCA	GRCh37
NC_000007.12:g.65063309_65063311delinsTCA	NCBI36
NG_016197.1:g.26426_26428delinsTGA
NG_051954.1:g.92789_92791delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.8_10delinsTGA MANE Select	ENSP00000302728.4:n.8_10delinsTGA
ENST00000304895.8:c.8_10delinsTGA	ENSP00000302728.4:n.8_10delinsTGA
ENST00000421103.5:c.8_10delinsTGA	ENSP00000391390.1:n.8_10delinsTGA
ENST00000430730.5:c.1231_1233delinsTGA	ENSP00000411859.1:n.1231_1233delinsTGA
ENST00000447929.5:c.1344_1346delinsTGA	ENSP00000411262.1:n.1344_1346delinsTGA
ENST00000466883.5:n.2354_2356delinsTGA
NM_000181.3:c.8_10delinsTGA	NP_000172.2:n.8_10delinsTGA
NM_001284290.1:c.8_10delinsTGA	NP_001271219.1:n.8_10delinsTGA
NM_001293104.1:c.8_10delinsTGA	NP_001280033.1:n.8_10delinsTGA
NM_001293105.1:c.8_10delinsTGA	NP_001280034.1:n.8_10delinsTGA
NR_120531.1:n.2010_2012delinsTGA
XM_005250297.3:c.8_10delinsTGA	XP_005250354.1:n.8_10delinsTGA
XM_011516113.1:c.8_10delinsTGA	XP_011514415.1:n.8_10delinsTGA
XM_011516114.1:c.8_10delinsTGA	XP_011514416.1:n.8_10delinsTGA
XM_005250297.4:c.8_10delinsTGA	XP_005250354.1:n.8_10delinsTGA
XM_011516114.2:c.8_10delinsTGA	XP_011514416.1:n.8_10delinsTGA
XM_017012091.1:c.8_10delinsTGA	XP_016867580.1:n.8_10delinsTGA
XM_017012092.1:c.8_10delinsTGA	XP_016867581.1:n.8_10delinsTGA
XM_017012093.2:c.8_10delinsTGA	XP_016867582.1:n.8_10delinsTGA
XR_001744658.2:n.1771_1773delinsTGA
XR_001744659.2:n.1884_1886delinsTGA
XR_001744660.2:n.1816_1818delinsTGA
XR_001744661.2:n.1731_1733delinsTGA
XR_927461.3:n.1969_1971delinsTGA
NM_000181.4:c.8_10delinsTGA MANE Select	NP_000172.2:n.8_10delinsTGA
NM_001284290.2:c.8_10delinsTGA	NP_001271219.1:n.8_10delinsTGA
NM_001293104.2:c.8_10delinsTGA	NP_001280033.1:n.8_10delinsTGA
NM_001293105.2:c.8_10delinsTGA	NP_001280034.1:n.8_10delinsTGA
NR_120531.2:n.1909_1911delinsTGA

HGVS	Amino-acid Change
ENST00000304895.9:c.8_10delinsTGA MANE Select	ENSP00000302728.4:n.8_10delinsTGA
ENST00000304895.8:c.8_10delinsTGA	ENSP00000302728.4:n.8_10delinsTGA
ENST00000421103.5:c.8_10delinsTGA	ENSP00000391390.1:n.8_10delinsTGA
ENST00000430730.5:c.1231_1233delinsTGA	ENSP00000411859.1:n.1231_1233delinsTGA
ENST00000447929.5:c.1344_1346delinsTGA	ENSP00000411262.1:n.1344_1346delinsTGA
ENST00000466883.5:n.2354_2356delinsTGA
NM_000181.3:c.8_10delinsTGA	NP_000172.2:n.8_10delinsTGA
NM_001284290.1:c.8_10delinsTGA	NP_001271219.1:n.8_10delinsTGA
NM_001293104.1:c.8_10delinsTGA	NP_001280033.1:n.8_10delinsTGA
NM_001293105.1:c.8_10delinsTGA	NP_001280034.1:n.8_10delinsTGA
NR_120531.1:n.2010_2012delinsTGA
XM_005250297.3:c.8_10delinsTGA	XP_005250354.1:n.8_10delinsTGA
XM_011516113.1:c.8_10delinsTGA	XP_011514415.1:n.8_10delinsTGA
XM_011516114.1:c.8_10delinsTGA	XP_011514416.1:n.8_10delinsTGA
XM_005250297.4:c.8_10delinsTGA	XP_005250354.1:n.8_10delinsTGA
XM_011516114.2:c.8_10delinsTGA	XP_011514416.1:n.8_10delinsTGA
XM_017012091.1:c.8_10delinsTGA	XP_016867580.1:n.8_10delinsTGA
XM_017012092.1:c.8_10delinsTGA	XP_016867581.1:n.8_10delinsTGA
XM_017012093.2:c.8_10delinsTGA	XP_016867582.1:n.8_10delinsTGA
XR_001744658.2:n.1771_1773delinsTGA
XR_001744659.2:n.1884_1886delinsTGA
XR_001744660.2:n.1816_1818delinsTGA
XR_001744661.2:n.1731_1733delinsTGA
XR_927461.3:n.1969_1971delinsTGA
NM_000181.4:c.8_10delinsTGA MANE Select	NP_000172.2:n.8_10delinsTGA
NM_001284290.2:c.8_10delinsTGA	NP_001271219.1:n.8_10delinsTGA
NM_001293104.2:c.8_10delinsTGA	NP_001280033.1:n.8_10delinsTGA
NM_001293105.2:c.8_10delinsTGA	NP_001280034.1:n.8_10delinsTGA
NR_120531.2:n.1909_1911delinsTGA