Canonical Allele Identifier: CA2675501549

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946952-T-TGGCAGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946953_138946954insGCAGGAGG , CM000667.2:g.138946953_138946954insGCAGGAGG	GRCh38
NC_000005.9:g.138282642_138282643insGCAGGAGG , CM000667.1:g.138282642_138282643insGCAGGAGG	GRCh37
NC_000005.8:g.138310541_138310542insGCAGGAGG	NCBI36
NG_008112.1:g.256424_256425insCTCCTGCC
NG_008112.2:g.256424_256425insCTCCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*164_*165insCTCCTGCC MANE Select	ENSP00000378294.2:n.*164_*165insCTCCTGCC
ENST00000265195.9:c.*164_*165insCTCCTGCC	ENSP00000265195.5:n.*164_*165insCTCCTGCC
ENST00000394817.6:c.*164_*165insCTCCTGCC	ENSP00000378294.2:n.*164_*165insCTCCTGCC
NM_001037633.1:c.*164_*165insCTCCTGCC	NP_001032722.1:n.*164_*165insCTCCTGCC
NM_022464.4:c.*164_*165insCTCCTGCC	NP_071909.1:n.*164_*165insCTCCTGCC
XM_011543570.2:c.*164_*165insCTCCTGCC	XP_011541872.1:n.*164_*165insCTCCTGCC
XM_024446164.1:c.*164_*165insCTCCTGCC	XP_024301932.1:n.*164_*165insCTCCTGCC
NM_022464.5:c.*164_*165insCTCCTGCC MANE Select	NP_071909.1:n.*164_*165insCTCCTGCC
NM_001037633.2:c.*164_*165insCTCCTGCC	NP_001032722.1:n.*164_*165insCTCCTGCC