Canonical Allele Identifier: CA3432312

Gene: SIL1

Linked Data

• dbSNP Id: rs776385756
• ExAC: 5:138282772 TAGCGGC / T
• gnomAD v2: 5-138282772-TAGCGGC-T
• gnomAD v4: 5-138947083-TAGCGGC-T
• MyVariant Identifiers: chr5:g.138282773_138282778del (hg19) ; chr5:g.138947084_138947089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947085_138947090del , CM000667.2:g.138947085_138947090del	GRCh38
NC_000005.9:g.138282774_138282779del , CM000667.1:g.138282774_138282779del	GRCh37
NC_000005.8:g.138310673_138310678del	NCBI36
NG_008112.1:g.256288_256293del
NG_008112.2:g.256288_256293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*28_*33del MANE Select	ENSP00000378294.2:n.*28_*33del
ENST00000265195.9:c.*28_*33del	ENSP00000265195.5:n.*28_*33del
ENST00000394817.6:c.*28_*33del	ENSP00000378294.2:n.*28_*33del
ENST00000509534.5:c.*28_*33del	ENSP00000426858.1:n.*28_*33del
ENST00000515008.1:n.749_754del
NM_001037633.1:c.*28_*33del	NP_001032722.1:n.*28_*33del
NM_022464.4:c.*28_*33del	NP_071909.1:n.*28_*33del
XM_011543570.1:c.*28_*33del	XP_011541872.1:n.*28_*33del
XM_011543570.2:c.*28_*33del	XP_011541872.1:n.*28_*33del
XM_024446164.1:c.*28_*33del	XP_024301932.1:n.*28_*33del
NM_022464.5:c.*28_*33del MANE Select	NP_071909.1:n.*28_*33del
NM_001037633.2:c.*28_*33del	NP_001032722.1:n.*28_*33del