Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960812_65960814delinsAAC , CM000669.2:g.65960812_65960814delinsAAC	GRCh38
NC_000007.13:g.65425799_65425801delinsAAC , CM000669.1:g.65425799_65425801delinsAAC	GRCh37
NC_000007.12:g.65063234_65063236delinsAAC	NCBI36
NG_016197.1:g.26501_26503delinsGTT
NG_051954.1:g.92714_92716delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.83_85delinsGTT MANE Select	ENSP00000302728.4:n.83_85delinsGTT
ENST00000304895.8:c.83_85delinsGTT	ENSP00000302728.4:n.83_85delinsGTT
ENST00000421103.5:c.83_85delinsGTT	ENSP00000391390.1:n.83_85delinsGTT
ENST00000430730.5:c.1306_1308delinsGTT	ENSP00000411859.1:n.1306_1308delinsGTT
ENST00000447929.5:c.1419_1421delinsGTT	ENSP00000411262.1:n.1419_1421delinsGTT
ENST00000466883.5:n.2429_2431delinsGTT
NM_000181.3:c.83_85delinsGTT	NP_000172.2:n.83_85delinsGTT
NM_001284290.1:c.83_85delinsGTT	NP_001271219.1:n.83_85delinsGTT
NM_001293104.1:c.83_85delinsGTT	NP_001280033.1:n.83_85delinsGTT
NM_001293105.1:c.83_85delinsGTT	NP_001280034.1:n.83_85delinsGTT
NR_120531.1:n.2085_2087delinsGTT
XM_005250297.3:c.83_85delinsGTT	XP_005250354.1:n.83_85delinsGTT
XM_011516113.1:c.83_85delinsGTT	XP_011514415.1:n.83_85delinsGTT
XM_011516114.1:c.83_85delinsGTT	XP_011514416.1:n.83_85delinsGTT
XM_005250297.4:c.83_85delinsGTT	XP_005250354.1:n.83_85delinsGTT
XM_011516114.2:c.83_85delinsGTT	XP_011514416.1:n.83_85delinsGTT
XM_017012091.1:c.83_85delinsGTT	XP_016867580.1:n.83_85delinsGTT
XM_017012092.1:c.83_85delinsGTT	XP_016867581.1:n.83_85delinsGTT
XM_017012093.2:c.83_85delinsGTT	XP_016867582.1:n.83_85delinsGTT
XR_001744658.2:n.1846_1848delinsGTT
XR_001744659.2:n.1959_1961delinsGTT
XR_001744660.2:n.1891_1893delinsGTT
XR_001744661.2:n.1806_1808delinsGTT
XR_927461.3:n.2044_2046delinsGTT
NM_000181.4:c.83_85delinsGTT MANE Select	NP_000172.2:n.83_85delinsGTT
NM_001284290.2:c.83_85delinsGTT	NP_001271219.1:n.83_85delinsGTT
NM_001293104.2:c.83_85delinsGTT	NP_001280033.1:n.83_85delinsGTT
NM_001293105.2:c.83_85delinsGTT	NP_001280034.1:n.83_85delinsGTT
NR_120531.2:n.1984_1986delinsGTT

HGVS	Amino-acid Change
ENST00000304895.9:c.83_85delinsGTT MANE Select	ENSP00000302728.4:n.83_85delinsGTT
ENST00000304895.8:c.83_85delinsGTT	ENSP00000302728.4:n.83_85delinsGTT
ENST00000421103.5:c.83_85delinsGTT	ENSP00000391390.1:n.83_85delinsGTT
ENST00000430730.5:c.1306_1308delinsGTT	ENSP00000411859.1:n.1306_1308delinsGTT
ENST00000447929.5:c.1419_1421delinsGTT	ENSP00000411262.1:n.1419_1421delinsGTT
ENST00000466883.5:n.2429_2431delinsGTT
NM_000181.3:c.83_85delinsGTT	NP_000172.2:n.83_85delinsGTT
NM_001284290.1:c.83_85delinsGTT	NP_001271219.1:n.83_85delinsGTT
NM_001293104.1:c.83_85delinsGTT	NP_001280033.1:n.83_85delinsGTT
NM_001293105.1:c.83_85delinsGTT	NP_001280034.1:n.83_85delinsGTT
NR_120531.1:n.2085_2087delinsGTT
XM_005250297.3:c.83_85delinsGTT	XP_005250354.1:n.83_85delinsGTT
XM_011516113.1:c.83_85delinsGTT	XP_011514415.1:n.83_85delinsGTT
XM_011516114.1:c.83_85delinsGTT	XP_011514416.1:n.83_85delinsGTT
XM_005250297.4:c.83_85delinsGTT	XP_005250354.1:n.83_85delinsGTT
XM_011516114.2:c.83_85delinsGTT	XP_011514416.1:n.83_85delinsGTT
XM_017012091.1:c.83_85delinsGTT	XP_016867580.1:n.83_85delinsGTT
XM_017012092.1:c.83_85delinsGTT	XP_016867581.1:n.83_85delinsGTT
XM_017012093.2:c.83_85delinsGTT	XP_016867582.1:n.83_85delinsGTT
XR_001744658.2:n.1846_1848delinsGTT
XR_001744659.2:n.1959_1961delinsGTT
XR_001744660.2:n.1891_1893delinsGTT
XR_001744661.2:n.1806_1808delinsGTT
XR_927461.3:n.2044_2046delinsGTT
NM_000181.4:c.83_85delinsGTT MANE Select	NP_000172.2:n.83_85delinsGTT
NM_001284290.2:c.83_85delinsGTT	NP_001271219.1:n.83_85delinsGTT
NM_001293104.2:c.83_85delinsGTT	NP_001280033.1:n.83_85delinsGTT
NM_001293105.2:c.83_85delinsGTT	NP_001280034.1:n.83_85delinsGTT
NR_120531.2:n.1984_1986delinsGTT