Canonical Allele Identifier: CA2675887688

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026878-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026879_149026880del , CM000667.2:g.149026879_149026880del	GRCh38
NC_000005.9:g.148406442_148406443del , CM000667.1:g.148406442_148406443del	GRCh37
NC_000005.8:g.148386635_148386636del	NCBI36
NG_007947.2:g.41295_41296del , LRG_269:g.41295_41296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2748_2749del
ENST00000515425.6:c.2852_2853del MANE Select	ENSP00000423660.1:p.Leu951Ter
ENST00000675793.1:c.*2136_*2137del	ENSP00000502039.1:n.*2136_*2137del
ENST00000676056.1:c.*2362_*2363del	ENSP00000501827.1:n.*2362_*2363del
ENST00000323829.9:c.*2240_*2241del	ENSP00000313025.5:n.*2240_*2241del
ENST00000504517.5:c.2382_2383del	ENSP00000421779.1:n.2382_2383del
ENST00000504690.5:c.2852_2853del	ENSP00000425627.1:p.Leu951Ter
ENST00000510779.1:c.1902_1903del
ENST00000511307.5:c.*2632_*2633del	ENSP00000421420.1:n.*2632_*2633del
ENST00000512049.5:c.2831_2832del	ENSP00000421860.1:p.Leu944Ter
ENST00000513604.5:c.*2240_*2241del	ENSP00000423111.1:n.*2240_*2241del
ENST00000515425.5:c.2852_2853del	ENSP00000423660.1:p.Leu951Ter
NM_024577.3:c.2852_2853del , LRG_269t1:c.2852_2853del	NP_078853.2:p.Leu951Ter
NM_024577.4:c.2852_2853del MANE Select	NP_078853.2:p.Leu951Ter