Canonical Allele Identifier: CA2675887473

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026543-TTCTAGGACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026545_149026554del , CM000667.2:g.149026545_149026554del	GRCh38
NC_000005.9:g.148406108_148406117del , CM000667.1:g.148406108_148406117del	GRCh37
NC_000005.8:g.148386301_148386310del	NCBI36
NG_007947.2:g.41622_41631del , LRG_269:g.41622_41631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949+19_2949+28del
ENST00000515425.6:c.3053+19_3053+28del MANE Select	ENSP00000423660.1:n.3053+19_3053+28del
ENST00000675793.1:c.*2337+19_*2337+28del	ENSP00000502039.1:n.*2337+19_*2337+28del
ENST00000676056.1:c.*2563+19_*2563+28del	ENSP00000501827.1:n.*2563+19_*2563+28del
ENST00000323829.9:c.*2441+19_*2441+28del	ENSP00000313025.5:n.*2441+19_*2441+28del
ENST00000504517.5:c.2583+19_2583+28del	ENSP00000421779.1:n.2583+19_2583+28del
ENST00000504690.5:c.3053+19_3053+28del	ENSP00000425627.1:n.3053+19_3053+28del
ENST00000510779.1:c.2103+19_2103+28del
ENST00000512049.5:c.3032+19_3032+28del	ENSP00000421860.1:n.3032+19_3032+28del
ENST00000513604.5:c.*2567_*2576del	ENSP00000423111.1:n.*2567_*2576del
ENST00000515425.5:c.3053+19_3053+28del	ENSP00000423660.1:n.3053+19_3053+28del
NM_024577.3:c.3053+19_3053+28del , LRG_269t1:c.3053+19_3053+28del	NP_078853.2:n.3053+19_3053+28del
NM_024577.4:c.3053+19_3053+28del MANE Select	NP_078853.2:n.3053+19_3053+28del