Canonical Allele Identifier: CA2658995235
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755800-CCCTCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755801_48755805del , CM000664.2:g.48755801_48755805del GRCh38
NC_000002.11:g.48982940_48982944del , CM000664.1:g.48982940_48982944del GRCh37
NC_000002.10:g.48836444_48836448del NCBI36
NG_008193.1:g.4937_4941del
NG_033050.1:g.230877_230881del
NG_008193.2:g.4937_4941del
NG_033050.2:g.230877_230881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20479_3442-20475del ENSP00000385701.1:n.3442-20479_3442-20475del
NM_001198593.1:c.3442-20479_3442-20475del NP_001185522.1:n.3442-20479_3442-20475del
NM_001198593.2:c.3442-20479_3442-20475del NP_001185522.1:n.3442-20479_3442-20475del
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