Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40001918_40001919insATACCAAATAATA , CM000669.2:g.40001918_40001919insATACCAAATAATA	GRCh38
NC_000007.13:g.40041517_40041518insATACCAAATAATA , CM000669.1:g.40041517_40041518insATACCAAATAATA	GRCh37
NC_000007.12:g.40008042_40008043insATACCAAATAATA	NCBI36
NG_052965.1:g.56559_56560insATACCAAATAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2240_2241insATACCAAATAATA MANE Select	ENSP00000181839.4:p.Thr748TyrfsTer11
ENST00000340829.10:c.2240_2241insATACCAAATAATA	ENSP00000340557.5:p.Thr748TyrfsTer11
ENST00000484589.2:c.792_793insATACCAAATAATA
ENST00000642213.1:n.722_723insATACCAAATAATA
ENST00000643859.1:c.1131_1132insATACCAAATAATA
ENST00000643915.1:c.554_555insATACCAAATAATA	ENSP00000496187.1:p.Thr186TyrfsTer11
ENST00000645470.1:c.170_171insATACCAAATAATA	ENSP00000495036.1:p.Thr58TyrfsTer11
ENST00000646039.1:c.1580_1581insATACCAAATAATA	ENSP00000494168.1:p.Thr528TyrfsTer11
ENST00000647453.1:n.1309_1310insATACCAAATAATA
ENST00000647518.1:n.4077_4078insATACCAAATAATA
ENST00000181839.8:c.2240_2241insATACCAAATAATA	ENSP00000181839.4:p.Thr748TyrfsTer11
ENST00000340829.9:c.2240_2241insATACCAAATAATA	ENSP00000340557.5:p.Thr748TyrfsTer11
ENST00000484589.1:n.792_793insATACCAAATAATA
ENST00000611390.1:c.398_399insATACCAAATAATA	ENSP00000484610.1:p.Thr134TyrfsTer11
ENST00000613626.4:c.398_399insATACCAAATAATA	ENSP00000480835.1:p.Thr134TyrfsTer11
NM_003718.4:c.2240_2241insATACCAAATAATA	NP_003709.3:p.Thr748TyrfsTer11
NM_031267.3:c.2240_2241insATACCAAATAATA	NP_112557.2:p.Thr748TyrfsTer11
XM_011515597.1:c.2240_2241insATACCAAATAATA	XP_011513899.1:p.Thr748TyrfsTer11
XM_011515598.1:c.2240_2241insATACCAAATAATA	XP_011513900.1:p.Thr748TyrfsTer11
XM_011515597.3:c.2240_2241insATACCAAATAATA	XP_011513899.1:p.Thr748TyrfsTer11
XM_017012750.2:c.2240_2241insATACCAAATAATA	XP_016868239.1:p.Thr748TyrfsTer11
XM_017012751.2:c.2240_2241insATACCAAATAATA	XP_016868240.1:p.Thr748TyrfsTer11
NM_003718.5:c.2240_2241insATACCAAATAATA MANE Select	NP_003709.3:p.Thr748TyrfsTer11