Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78033869_78033870delinsTC , CM000672.2:g.78033869_78033870delinsTC	GRCh38
NC_000010.10:g.79793627_79793628delinsTC , CM000672.1:g.79793627_79793628delinsTC	GRCh37
NC_000010.9:g.79463633_79463634delinsTC	NCBI36
NG_012633.1:g.5110_5111delinsTC
NG_029648.1:g.671_672delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360830.9:c.-33_-32delinsTC	ENSP00000354074.5:n.-33_-32delinsTC
ENST00000372360.9:c.-33_-32delinsTC MANE Select	ENSP00000361435.4:n.-33_-32delinsTC
ENST00000440692.6:c.-33_-32delinsTC	ENSP00000414321.1:n.-33_-32delinsTC
ENST00000464716.6:c.-33_-32delinsTC	ENSP00000494231.1:n.-33_-32delinsTC
ENST00000478655.6:n.7_8delinsTC
ENST00000485708.7:n.7_8delinsTC
ENST00000613865.5:c.-33_-32delinsTC	ENSP00000478869.2:n.-33_-32delinsTC
ENST00000645440.1:c.-33_-32delinsTC	ENSP00000496738.1:n.-33_-32delinsTC
ENST00000372360.7:c.-33_-32delinsTC	ENSP00000361435.3:n.-33_-32delinsTC
ENST00000435275.5:c.-33_-32delinsTC	ENSP00000415549.1:n.-33_-32delinsTC
ENST00000440692.5:c.-33_-32delinsTC	ENSP00000414321.1:n.-33_-32delinsTC
ENST00000478655.5:n.7_8delinsTC
ENST00000485708.6:n.26_27delinsTC
ENST00000613865.4:c.-33_-32delinsTC	ENSP00000478869.1:n.-33_-32delinsTC
NM_001026.4:c.-33_-32delinsTC	NP_001017.1:n.-33_-32delinsTC
NM_001142282.1:c.-33_-32delinsTC	NP_001135754.1:n.-33_-32delinsTC
NM_001142283.1:c.-33_-32delinsTC	NP_001135755.1:n.-33_-32delinsTC
NM_001142284.1:c.-33_-32delinsTC	NP_001135756.1:n.-33_-32delinsTC
NM_001142285.1:c.-33_-32delinsTC	NP_001135757.1:n.-33_-32delinsTC
NM_033022.3:c.-33_-32delinsTC	NP_148982.1:n.-33_-32delinsTC
NM_001142285.2:c.-33_-32delinsTC	NP_001135757.1:n.-33_-32delinsTC
NM_033022.4:c.-33_-32delinsTC MANE Select	NP_148982.1:n.-33_-32delinsTC
NM_001026.5:c.-33_-32delinsTC	NP_001017.1:n.-33_-32delinsTC
NM_001142282.2:c.-33_-32delinsTC	NP_001135754.1:n.-33_-32delinsTC
NM_001142283.2:c.-33_-32delinsTC	NP_001135755.1:n.-33_-32delinsTC
NM_001142284.2:c.-33_-32delinsTC	NP_001135756.1:n.-33_-32delinsTC