Canonical Allele Identifier: CA767229501

Gene: SH3YL1

Linked Data

• dbSNP Id: rs1473760368
• gnomAD v3: 2-263517-AGGGGCTGGCCCTTCTCTTCCAGGTTGG-A
• gnomAD v4: 2-263517-AGGGGCTGGCCCTTCTCTTCCAGGTTGG-A
• MyVariant Identifiers: chr2:g.263518_263544del (hg19) ; chr2:g.263518_263544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263527_263553del , CM000664.2:g.263527_263553del	GRCh38
NC_000002.11:g.263527_263553del , CM000664.1:g.263527_263553del	GRCh37
NC_000002.10:g.253527_253553del	NCBI36
NG_012035.1:g.3659_3685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+440_1+466del MANE Select	ENSP00000348471.5:n.1+440_1+466del
ENST00000356150.9:c.1+440_1+466del	ENSP00000348471.5:n.1+440_1+466del
ENST00000402632.5:c.-155-758_-155-732del	ENSP00000384910.1:n.-155-758_-155-732del
ENST00000403658.5:c.-422+1238_-422+1264del	ENSP00000383928.1:n.-422+1238_-422+1264del
ENST00000403712.6:c.1+440_1+466del	ENSP00000384276.1:n.1+440_1+466del
ENST00000405430.5:c.-281-172_-281-146del	ENSP00000384269.1:n.-281-172_-281-146del
ENST00000415368.5:c.-313-176_-313-150del	ENSP00000410235.1:n.-313-176_-313-150del
ENST00000454318.1:c.-362+1238_-362+1264del	ENSP00000415723.1:n.-362+1238_-362+1264del
ENST00000462719.1:n.105+2750_105+2776del
ENST00000463865.5:n.309+540_309+566del
ENST00000465733.5:n.30-172_30-146del
ENST00000468321.5:n.42-758_42-732del
ENST00000471948.5:n.440_466del
ENST00000472861.1:n.30-172_30-146del
ENST00000475027.5:n.29+1238_29+1264del
ENST00000477707.5:n.228+20_228+46del
ENST00000488044.5:n.85+1238_85+1264del
ENST00000488979.6:n.27+998_27+1024del
ENST00000626873.2:c.-556+600_-556+626del	ENSP00000485824.1:n.-556+600_-556+626del
NM_001159597.2:c.1+440_1+466del	NP_001153069.1:n.1+440_1+466del
NM_001282682.1:c.-422+1238_-422+1264del	NP_001269611.1:n.-422+1238_-422+1264del
NM_015677.3:c.1+440_1+466del	NP_056492.2:n.1+440_1+466del
NR_104223.1:n.42-758_42-732del
NR_104224.1:n.86-758_86-732del
NR_104225.1:n.309+540_309+566del
NM_015677.4:c.1+440_1+466del MANE Select	NP_056492.2:n.1+440_1+466del
NR_104224.2:n.44-758_44-732del
NM_001159597.3:c.1+440_1+466del	NP_001153069.1:n.1+440_1+466del
NM_001282682.2:c.-422+1238_-422+1264del	NP_001269611.1:n.-422+1238_-422+1264del
NR_104223.2:n.42-758_42-732del
NR_104224.3:n.44-758_44-732del