Canonical Allele Identifier: CA1586100044

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946840_138946842delinsTCC , CM000667.2:g.138946840_138946842delinsTCC	GRCh38
NC_000005.9:g.138282529_138282531delinsTCC , CM000667.1:g.138282529_138282531delinsTCC	GRCh37
NC_000005.8:g.138310428_138310430delinsTCC	NCBI36
NG_008112.1:g.256535_256537delinsGGA
NG_008112.2:g.256535_256537delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*275_*277delinsGGA MANE Select	ENSP00000378294.2:n.*275_*277delinsGGA
ENST00000265195.9:c.*275_*277delinsGGA	ENSP00000265195.5:n.*275_*277delinsGGA
ENST00000394817.6:c.*275_*277delinsGGA	ENSP00000378294.2:n.*275_*277delinsGGA
NM_001037633.1:c.*275_*277delinsGGA	NP_001032722.1:n.*275_*277delinsGGA
NM_022464.4:c.*275_*277delinsGGA	NP_071909.1:n.*275_*277delinsGGA
XM_011543570.2:c.*275_*277delinsGGA	XP_011541872.1:n.*275_*277delinsGGA
XM_024446164.1:c.*275_*277delinsGGA	XP_024301932.1:n.*275_*277delinsGGA
NM_022464.5:c.*275_*277delinsGGA MANE Select	NP_071909.1:n.*275_*277delinsGGA
NM_001037633.2:c.*275_*277delinsGGA	NP_001032722.1:n.*275_*277delinsGGA