Canonical Allele Identifier: CA2675507834
Gene: SIL1 HGNC NCBI
MATR3 HGNC NCBI
SNHG4 HGNC NCBI

Linked Data

gnomAD v4: 5-139273848-G-GATTC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273849_139273852dup , CM000667.2:g.139273849_139273852dup GRCh38
NC_000005.9:g.138609538_138609541dup , CM000667.1:g.138609538_138609541dup GRCh37
NC_000005.8:g.138637437_138637440dup NCBI36
NG_012846.1:g.4747_4750dup

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-331_-328dup ENSP00000423521.1:n.-331_-328dup
ENST00000508744.1:n.466-198_466-195dup (SIL1)
ENST00000509400.5:n.293+6716_293+6719dup (SIL1)
ENST00000509990.5:c.-599_-596dup ENSP00000423533.1:n.-599_-596dup
ENST00000512107.5:c.-548_-545dup ENSP00000423695.1:n.-548_-545dup
NM_001194954.1:c.-599_-596dup (MATR3) NP_001181883.1:n.-599_-596dup
NM_001282278.1:c.-606_-603dup (MATR3) NP_001269207.1:n.-606_-603dup
NM_199189.2:c.-681_-678dup (MATR3) NP_954659.1:n.-681_-678dup
NR_003141.3:n.98_101dup (SNHG4)
NR_036536.1:n.98_101dup (SNHG4)
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