Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272944_22272949delinsGCAAGA , CM000673.2:g.22272944_22272949delinsGCAAGA	GRCh38
NC_000011.9:g.22294490_22294495delinsGCAAGA , CM000673.1:g.22294490_22294495delinsGCAAGA	GRCh37
NC_000011.8:g.22251066_22251071delinsGCAAGA	NCBI36
NG_015844.1:g.84769_84774delinsGCAAGA , LRG_868:g.84769_84774delinsGCAAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.207_212delinsGCAAGA
ENST00000682266.1:c.1740_1745delinsGCAAGA	ENSP00000507766.1:p.Trp580=
ENST00000682341.1:c.2148_2153delinsGCAAGA	ENSP00000508251.1:p.Trp716=
ENST00000683197.1:c.2148_2153delinsGCAAGA	ENSP00000507641.1:p.Trp716=
ENST00000683411.1:c.1740_1745delinsGCAAGA	ENSP00000508397.1:p.Trp580=
ENST00000683437.1:c.1740_1745delinsGCAAGA	ENSP00000508408.1:p.Trp580=
ENST00000683613.1:n.3184_3189delinsGCAAGA
ENST00000684663.1:c.2145_2150delinsGCAAGA	ENSP00000508009.1:p.Trp715=
ENST00000324559.9:c.2190_2195delinsGCAAGA MANE Select	ENSP00000315371.9:p.Trp730=
ENST00000648804.1:n.2525_2530delinsGCAAGA
ENST00000324559.8:c.2190_2195delinsGCAAGA	ENSP00000315371.8:p.Trp730=
ENST00000532043.1:n.207_212delinsGCAAGA
NM_001142649.1:c.2187_2192delinsGCAAGA	NP_001136121.1:p.Trp729=
NM_213599.2:c.2190_2195delinsGCAAGA , LRG_868t1:c.2190_2195delinsGCAAGA	NP_998764.1:p.Trp730=
XM_005252820.2:c.2148_2153delinsGCAAGA	XP_005252877.2:p.Trp716=
XM_005252821.2:c.2145_2150delinsGCAAGA	XP_005252878.2:p.Trp715=
XM_005252822.3:c.2112_2117delinsGCAAGA	XP_005252879.1:p.Trp704=
XM_005252823.3:c.2109_2114delinsGCAAGA	XP_005252880.1:p.Trp703=
XM_011519949.1:c.2097_2102delinsGCAAGA	XP_011518251.1:p.Trp699=
XM_005252820.3:c.2148_2153delinsGCAAGA	XP_005252877.2:p.Trp716=
XM_005252821.3:c.2145_2150delinsGCAAGA	XP_005252878.2:p.Trp715=
XM_005252822.4:c.2112_2117delinsGCAAGA	XP_005252879.1:p.Trp704=
XM_011519949.2:c.2097_2102delinsGCAAGA	XP_011518251.1:p.Trp699=
NM_001142649.2:c.2187_2192delinsGCAAGA	NP_001136121.1:p.Trp729=
NM_213599.3:c.2190_2195delinsGCAAGA MANE Select	NP_998764.1:p.Trp730=