Canonical Allele Identifier: CA2637582978

Gene: STAC2

Linked Data

• gnomAD v4: 17-39217995-GTAGCCAGGCCCCTGTCCGAGGCTGTGGGTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39217996_39218027del , CM000679.2:g.39217996_39218027del	GRCh38
NC_000017.10:g.37374249_37374280del , CM000679.1:g.37374249_37374280del	GRCh37
NC_000017.9:g.34627775_34627806del	NCBI36
NG_054936.1:g.12761_12792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333461.6:c.237_268del MANE Select	ENSP00000327509.5:p.Pro81IlefsTer?
ENST00000333461.5:c.237_268del	ENSP00000327509.5:p.Pro81IlefsTer?
ENST00000584501.1:c.195+42_195+73del	ENSP00000463299.1:n.195+42_195+73del
NM_198993.3:c.237_268del	NP_945344.1:p.Pro81IlefsTer?
NM_001351360.1:c.-30+42_-30+73del	NP_001338289.1:n.-30+42_-30+73del
NM_198993.4:c.237_268del	NP_945344.1:p.Pro81IlefsTer?
XM_017024580.1:c.237_268del	XP_016880069.1:p.Pro81IlefsTer?
XM_017024581.1:c.237_268del	XP_016880070.1:p.Pro81IlefsTer?
XM_017024583.1:c.237_268del	XP_016880072.1:p.Pro81IlefsTer?
XR_002957997.1:n.522_553del
NM_198993.5:c.237_268del MANE Select	NP_945344.1:p.Pro81IlefsTer?
NM_001351360.2:c.-30+42_-30+73del	NP_001338289.1:n.-30+42_-30+73del