Canonical Allele Identifier: CA2695205311

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947224_138947230del , CM000667.2:g.138947224_138947230del	GRCh38
NC_000005.9:g.138282913_138282919del , CM000667.1:g.138282913_138282919del	GRCh37
NC_000005.8:g.138310812_138310818del	NCBI36
NG_008112.1:g.256150_256156del
NG_008112.2:g.256150_256156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1276_1282del MANE Select	ENSP00000378294.2:p.Gln426SerfsTer30
ENST00000265195.9:c.1276_1282del	ENSP00000265195.5:p.Gln426SerfsTer30
ENST00000394817.6:c.1276_1282del	ENSP00000378294.2:p.Gln426SerfsTer30
ENST00000509534.5:c.1297_1303del	ENSP00000426858.1:p.Gln433SerfsTer30
ENST00000515008.1:n.611_617del
NM_001037633.1:c.1276_1282del	NP_001032722.1:p.Gln426SerfsTer30
NM_022464.4:c.1276_1282del	NP_071909.1:p.Gln426SerfsTer30
XM_011543570.1:c.1306_1312del	XP_011541872.1:p.Gln436SerfsTer30
XM_011543570.2:c.1306_1312del	XP_011541872.1:p.Gln436SerfsTer30
XM_024446164.1:c.1276_1282del	XP_024301932.1:p.Gln426SerfsTer30
NM_022464.5:c.1276_1282del MANE Select	NP_071909.1:p.Gln426SerfsTer30
NM_001037633.2:c.1276_1282del	NP_001032722.1:p.Gln426SerfsTer30