Canonical Allele Identifier: CA1590312074

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026608_149026609delinsGA , CM000667.2:g.149026608_149026609delinsGA	GRCh38
NC_000005.9:g.148406171_148406172delinsGA , CM000667.1:g.148406171_148406172delinsGA	GRCh37
NC_000005.8:g.148386364_148386365delinsGA	NCBI36
NG_007947.2:g.41566_41567delinsTC , LRG_269:g.41566_41567delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2912_2913delinsTC
ENST00000515425.6:c.3016_3017delinsTC MANE Select	ENSP00000423660.1:p.Ser1006=
ENST00000675793.1:c.*2300_*2301delinsTC	ENSP00000502039.1:n.*2300_*2301delinsTC
ENST00000676056.1:c.*2526_*2527delinsTC	ENSP00000501827.1:n.*2526_*2527delinsTC
ENST00000323829.9:c.*2404_*2405delinsTC	ENSP00000313025.5:n.*2404_*2405delinsTC
ENST00000504517.5:c.2546_2547delinsTC	ENSP00000421779.1:n.2546_2547delinsTC
ENST00000504690.5:c.3016_3017delinsTC	ENSP00000425627.1:p.Ser1006=
ENST00000510779.1:c.2066_2067delinsTC
ENST00000511307.5:c.*2903_*2904delinsTC	ENSP00000421420.1:n.*2903_*2904delinsTC
ENST00000512049.5:c.2995_2996delinsTC	ENSP00000421860.1:p.Ser999=
ENST00000513604.5:c.*2511_*2512delinsTC	ENSP00000423111.1:n.*2511_*2512delinsTC
ENST00000515425.5:c.3016_3017delinsTC	ENSP00000423660.1:p.Ser1006=
NM_024577.3:c.3016_3017delinsTC , LRG_269t1:c.3016_3017delinsTC	NP_078853.2:p.Ser1006=
NM_024577.4:c.3016_3017delinsTC MANE Select	NP_078853.2:p.Ser1006=