Canonical Allele Identifier: CA2578445823

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027921-T-TCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027931_149027934dup , CM000667.2:g.149027931_149027934dup	GRCh38
NC_000005.9:g.148407494_148407497dup , CM000667.1:g.148407494_148407497dup	GRCh37
NC_000005.8:g.148387687_148387690dup	NCBI36
NG_007947.2:g.40250_40253dup , LRG_269:g.40250_40253dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1703_1706dup
ENST00000515425.6:c.1807_1810dup MANE Select	ENSP00000423660.1:p.Asp604AlafsTer2
ENST00000675793.1:c.*1091_*1094dup	ENSP00000502039.1:n.*1091_*1094dup
ENST00000676056.1:c.*1317_*1320dup	ENSP00000501827.1:n.*1317_*1320dup
ENST00000323829.9:c.*1195_*1198dup	ENSP00000313025.5:n.*1195_*1198dup
ENST00000504517.5:c.1337_1340dup	ENSP00000421779.1:n.1337_1340dup
ENST00000504690.5:c.1807_1810dup	ENSP00000425627.1:p.Asp604AlafsTer2
ENST00000510779.1:c.857_860dup
ENST00000511307.5:c.*1587_*1590dup	ENSP00000421420.1:n.*1587_*1590dup
ENST00000512049.5:c.1786_1789dup	ENSP00000421860.1:p.Asp597AlafsTer2
ENST00000513604.5:c.*1195_*1198dup	ENSP00000423111.1:n.*1195_*1198dup
ENST00000515425.5:c.1807_1810dup	ENSP00000423660.1:p.Asp604AlafsTer2
NM_024577.3:c.1807_1810dup , LRG_269t1:c.1807_1810dup	NP_078853.2:p.Asp604AlafsTer2
NM_024577.4:c.1807_1810dup MANE Select	NP_078853.2:p.Asp604AlafsTer2