Canonical Allele Identifier: CA1232982141

Gene: SH3YL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263504_263532delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT , CM000664.2:g.263504_263532delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT	GRCh38
NC_000002.11:g.263504_263532delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT , CM000664.1:g.263504_263532delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT	GRCh37
NC_000002.10:g.253504_253532delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT	NCBI36
NG_012035.1:g.3636_3664delinsCCTTCCGGGTGTGAGGGGCTGGCCCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG MANE Select	ENSP00000348471.5:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCG...
ENST00000356150.9:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000348471.5:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCG...
ENST00000402632.5:c.-155-746_-155-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000384910.1:n.-155-746_-155-718delinsAGAAGGGCCAGCCCCTCA...
ENST00000403658.5:c.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000383928.1:n.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCT...
ENST00000403712.6:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000384276.1:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCG...
ENST00000405430.5:c.-281-160_-281-132delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000384269.1:n.-281-160_-281-132delinsAGAAGGGCCAGCCCCTCA...
ENST00000415368.5:c.-313-164_-313-136delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000410235.1:n.-313-164_-313-136delinsAGAAGGGCCAGCCCCTCA...
ENST00000454318.1:c.-362+1250_-362+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000415723.1:n.-362+1250_-362+1278delinsAGAAGGGCCAGCCCCT...
ENST00000462719.1:n.105+2762_106-2784delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000463865.5:n.309+552_309+580delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000465733.5:n.30-160_30-132delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000468321.5:n.42-746_42-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000471948.5:n.452_480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000472861.1:n.30-160_30-132delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000475027.5:n.29+1250_29+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000477707.5:n.228+32_228+60delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000488044.5:n.85+1250_85+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000488979.6:n.27+1010_27+1038delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
ENST00000626873.2:c.-556+612_-556+640delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	ENSP00000485824.1:n.-556+612_-556+640delinsAGAAGGGCCAGCCCCTCA...
NM_001159597.2:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	NP_001153069.1:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAA...
NM_001282682.1:c.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	NP_001269611.1:n.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCTCAC...
NM_015677.3:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	NP_056492.2:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NR_104223.1:n.42-746_42-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NR_104224.1:n.86-746_86-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NR_104225.1:n.309+552_309+580delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NM_015677.4:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG MANE Select	NP_056492.2:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NR_104224.2:n.44-746_44-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NM_001159597.3:c.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	NP_001153069.1:n.1+452_1+480delinsAGAAGGGCCAGCCCCTCACACCCGGAA...
NM_001282682.2:c.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG	NP_001269611.1:n.-422+1250_-422+1278delinsAGAAGGGCCAGCCCCTCAC...
NR_104223.2:n.42-746_42-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG
NR_104224.3:n.44-746_44-718delinsAGAAGGGCCAGCCCCTCACACCCGGAAGG