Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144829_206144833delinsAAATT , CM000664.2:g.206144829_206144833delinsAAATT	GRCh38
NC_000002.11:g.207009553_207009557delinsAAATT , CM000664.1:g.207009553_207009557delinsAAATT	GRCh37
NC_000002.10:g.206717798_206717802delinsAAATT	NCBI36
NG_009248.1:g.19631_19635delinsAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+59_872+63delinsAATTT MANE Select	ENSP00000233190.5:n.872+59_872+63delinsAATTT
ENST00000233190.10:c.872+59_872+63delinsAATTT	ENSP00000233190.5:n.872+59_872+63delinsAATTT
ENST00000423725.5:c.701+59_701+63delinsAATTT	ENSP00000397760.1:n.701+59_701+63delinsAATTT
ENST00000432169.5:c.539+59_539+63delinsAATTT	ENSP00000409689.1:n.539+59_539+63delinsAATTT
ENST00000440274.5:c.764+59_764+63delinsAATTT	ENSP00000409766.1:n.764+59_764+63delinsAATTT
ENST00000449699.5:c.872+59_872+63delinsAATTT	ENSP00000399912.1:n.872+59_872+63delinsAATTT
ENST00000455934.6:c.914+59_914+63delinsAATTT	ENSP00000392709.2:n.914+59_914+63delinsAATTT
ENST00000457011.5:c.524+59_524+63delinsAATTT	ENSP00000400976.1:n.524+59_524+63delinsAATTT
NM_001199981.1:c.764+59_764+63delinsAATTT	NP_001186910.1:n.764+59_764+63delinsAATTT
NM_001199982.1:c.539+59_539+63delinsAATTT	NP_001186911.1:n.539+59_539+63delinsAATTT
NM_001199983.1:c.701+59_701+63delinsAATTT	NP_001186912.1:n.701+59_701+63delinsAATTT
NM_001199984.1:c.914+59_914+63delinsAATTT	NP_001186913.1:n.914+59_914+63delinsAATTT
NM_005006.6:c.872+59_872+63delinsAATTT	NP_004997.4:n.872+59_872+63delinsAATTT
XM_017004188.2:c.113+59_113+63delinsAATTT	XP_016859677.1:n.113+59_113+63delinsAATTT
NM_001199981.2:c.764+59_764+63delinsAATTT	NP_001186910.1:n.764+59_764+63delinsAATTT
NM_001199982.2:c.539+59_539+63delinsAATTT	NP_001186911.1:n.539+59_539+63delinsAATTT
NM_001199983.2:c.701+59_701+63delinsAATTT	NP_001186912.1:n.701+59_701+63delinsAATTT
NM_005006.7:c.872+59_872+63delinsAATTT MANE Select	NP_004997.4:n.872+59_872+63delinsAATTT
NM_001199984.2:c.914+59_914+63delinsAATTT	NP_001186913.1:n.914+59_914+63delinsAATTT