Canonical Allele Identifier: CA1586100052

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946845_138946857delinsGGCCCAGGTTCCT , CM000667.2:g.138946845_138946857delinsGGCCCAGGTTCCT	GRCh38
NC_000005.9:g.138282534_138282546delinsGGCCCAGGTTCCT , CM000667.1:g.138282534_138282546delinsGGCCCAGGTTCCT	GRCh37
NC_000005.8:g.138310433_138310445delinsGGCCCAGGTTCCT	NCBI36
NG_008112.1:g.256520_256532delinsAGGAACCTGGGCC
NG_008112.2:g.256520_256532delinsAGGAACCTGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*260_*272delinsAGGAACCTGGGCC MANE Select	ENSP00000378294.2:n.*260_*272delinsAGGAACCTGGGCC
ENST00000265195.9:c.*260_*272delinsAGGAACCTGGGCC	ENSP00000265195.5:n.*260_*272delinsAGGAACCTGGGCC
ENST00000394817.6:c.*260_*272delinsAGGAACCTGGGCC	ENSP00000378294.2:n.*260_*272delinsAGGAACCTGGGCC
NM_001037633.1:c.*260_*272delinsAGGAACCTGGGCC	NP_001032722.1:n.*260_*272delinsAGGAACCTGGGCC
NM_022464.4:c.*260_*272delinsAGGAACCTGGGCC	NP_071909.1:n.*260_*272delinsAGGAACCTGGGCC
XM_011543570.2:c.*260_*272delinsAGGAACCTGGGCC	XP_011541872.1:n.*260_*272delinsAGGAACCTGGGCC
XM_024446164.1:c.*260_*272delinsAGGAACCTGGGCC	XP_024301932.1:n.*260_*272delinsAGGAACCTGGGCC
NM_022464.5:c.*260_*272delinsAGGAACCTGGGCC MANE Select	NP_071909.1:n.*260_*272delinsAGGAACCTGGGCC
NM_001037633.2:c.*260_*272delinsAGGAACCTGGGCC	NP_001032722.1:n.*260_*272delinsAGGAACCTGGGCC