Canonical Allele Identifier: CA2675501701

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947229-AGGCTGGCCAGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947230_138947242del , CM000667.2:g.138947230_138947242del	GRCh38
NC_000005.9:g.138282919_138282931del , CM000667.1:g.138282919_138282931del	GRCh37
NC_000005.8:g.138310818_138310830del	NCBI36
NG_008112.1:g.256135_256147del
NG_008112.2:g.256135_256147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1261_1273del MANE Select	ENSP00000378294.2:p.Thr421CysfsTer?
ENST00000265195.9:c.1261_1273del	ENSP00000265195.5:p.Thr421CysfsTer?
ENST00000394817.6:c.1261_1273del	ENSP00000378294.2:p.Thr421CysfsTer?
ENST00000509534.5:c.1282_1294del	ENSP00000426858.1:p.Thr428CysfsTer?
ENST00000515008.1:n.596_608del
NM_001037633.1:c.1261_1273del	NP_001032722.1:p.Thr421CysfsTer?
NM_022464.4:c.1261_1273del	NP_071909.1:p.Thr421CysfsTer?
XM_011543570.1:c.1291_1303del	XP_011541872.1:p.Thr431CysfsTer?
XM_011543570.2:c.1291_1303del	XP_011541872.1:p.Thr431CysfsTer?
XM_024446164.1:c.1261_1273del	XP_024301932.1:p.Thr421CysfsTer?
NM_022464.5:c.1261_1273del MANE Select	NP_071909.1:p.Thr421CysfsTer?
NM_001037633.2:c.1261_1273del	NP_001032722.1:p.Thr421CysfsTer?