Canonical Allele Identifier: CA1590304139
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008689_149008707delinsTAGAAGTTAAGCAACTTGC , CM000667.2:g.149008689_149008707delinsTAGAAGTTAAGCAACTTGC GRCh38
NC_000005.9:g.148388252_148388270delinsTAGAAGTTAAGCAACTTGC , CM000667.1:g.148388252_148388270delinsTAGAAGTTAAGCAACTTGC GRCh37
NC_000005.8:g.148368445_148368463delinsTAGAAGTTAAGCAACTTGC NCBI36
NG_007947.2:g.59468_59486delinsGCAAGTTGCTTAACTTCTA , LRG_269:g.59468_59486delinsGCAAGTTGCTTAACTTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3374+144_3374+162delinsGCAAGTTGCTTAACTTCTA
ENST00000515425.6:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA MANE Select ENSP00000423660.1:n.3478+144_3478+162delinsGCAAGTTGCTTAACTTCT...
ENST00000675793.1:c.*2906_*2924delinsGCAAGTTGCTTAACTTCTA ENSP00000502039.1:n.*2906_*2924delinsGCAAGTTGCTTAACTTCTA
ENST00000323829.9:c.*2866+144_*2866+162delinsGCAAGTTGCTTAACTTCTA ENSP00000313025.5:n.*2866+144_*2866+162delinsGCAAGTTGCTTAACTT...
ENST00000504517.5:c.3008+144_3008+162delinsGCAAGTTGCTTAACTTCTA ENSP00000421779.1:n.3008+144_3008+162delinsGCAAGTTGCTTAACTTCT...
ENST00000504690.5:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA ENSP00000425627.1:n.3478+144_3478+162delinsGCAAGTTGCTTAACTTCT...
ENST00000510779.1:c.2528+144_2528+162delinsGCAAGTTGCTTAACTTCTA
ENST00000512049.5:c.3457+144_3457+162delinsGCAAGTTGCTTAACTTCTA ENSP00000421860.1:n.3457+144_3457+162delinsGCAAGTTGCTTAACTTCT...
ENST00000515229.5:n.140+144_140+162delinsGCAAGTTGCTTAACTTCTA
ENST00000515425.5:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA ENSP00000423660.1:n.3478+144_3478+162delinsGCAAGTTGCTTAACTTCT...
NM_024577.3:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA , LRG_269t1:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA NP_078853.2:n.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA
NM_024577.4:c.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA MANE Select NP_078853.2:n.3478+144_3478+162delinsGCAAGTTGCTTAACTTCTA