Canonical Allele Identifier: CA2657617081

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263431-TGCTCGCCGCGACCCCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263439_263455del , CM000664.2:g.263439_263455del	GRCh38
NC_000002.11:g.263439_263455del , CM000664.1:g.263439_263455del	GRCh37
NC_000002.10:g.253439_253455del	NCBI36
NG_012035.1:g.3571_3587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+536_1+552del MANE Select	ENSP00000348471.5:n.1+536_1+552del
ENST00000356150.9:c.1+536_1+552del	ENSP00000348471.5:n.1+536_1+552del
ENST00000402632.5:c.-155-662_-155-646del	ENSP00000384910.1:n.-155-662_-155-646del
ENST00000403658.5:c.-422+1334_-422+1350del	ENSP00000383928.1:n.-422+1334_-422+1350del
ENST00000403712.6:c.1+536_1+552del	ENSP00000384276.1:n.1+536_1+552del
ENST00000405430.5:c.-281-76_-281-60del	ENSP00000384269.1:n.-281-76_-281-60del
ENST00000415368.5:c.-313-80_-313-64del	ENSP00000410235.1:n.-313-80_-313-64del
ENST00000454318.1:c.-362+1334_-362+1350del	ENSP00000415723.1:n.-362+1334_-362+1350del
ENST00000462719.1:n.106-2728_106-2712del
ENST00000463865.5:n.309+636_309+652del
ENST00000465733.5:n.30-76_30-60del
ENST00000468321.5:n.42-662_42-646del
ENST00000471948.5:n.536_552del
ENST00000472861.1:n.30-76_30-60del
ENST00000475027.5:n.29+1334_29+1350del
ENST00000477707.5:n.229-76_229-60del
ENST00000488044.5:n.85+1334_85+1350del
ENST00000488979.6:n.27+1094_27+1110del
ENST00000626873.2:c.-556+696_-556+712del	ENSP00000485824.1:n.-556+696_-556+712del
NM_001159597.2:c.1+536_1+552del	NP_001153069.1:n.1+536_1+552del
NM_001282682.1:c.-422+1334_-422+1350del	NP_001269611.1:n.-422+1334_-422+1350del
NM_015677.3:c.1+536_1+552del	NP_056492.2:n.1+536_1+552del
NR_104223.1:n.42-662_42-646del
NR_104224.1:n.86-662_86-646del
NR_104225.1:n.309+636_309+652del
NM_015677.4:c.1+536_1+552del MANE Select	NP_056492.2:n.1+536_1+552del
NR_104224.2:n.44-662_44-646del
NM_001159597.3:c.1+536_1+552del	NP_001153069.1:n.1+536_1+552del
NM_001282682.2:c.-422+1334_-422+1350del	NP_001269611.1:n.-422+1334_-422+1350del
NR_104223.2:n.42-662_42-646del
NR_104224.3:n.44-662_44-646del