Canonical Allele Identifier: CA2688347330
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111433-C-CCA
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111433_118111434insCA , CM000670.2:g.118111433_118111434insCA GRCh38
NC_000008.10:g.119123672_119123673insCA , CM000670.1:g.119123672_119123673insCA GRCh37
NC_000008.9:g.119192853_119192854insCA NCBI36
NG_007455.2:g.5386_5387insTG , LRG_493:g.5386_5387insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-388_-387insTG MANE Select ENSP00000367446.3:n.-388_-387insTG
ENST00000378204.6:c.-388_-387insTG ENSP00000367446.2:n.-388_-387insTG
NM_000127.2:c.-388_-387insTG , LRG_493t1:c.-388_-387insTG NP_000118.2:n.-388_-387insTG
NM_000127.3:c.-388_-387insTG MANE Select NP_000118.2:n.-388_-387insTG
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