Canonical Allele Identifier: CA2573332356

Gene: SP6

Linked Data

• ClinVar Variation Id: 1712318
• ClinVar RCV Id: RCV003329443

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47847612_47847613delinsTT , CM000679.2:g.47847612_47847613delinsTT	GRCh38
NC_000017.10:g.45924978_45924979delinsTT , CM000679.1:g.45924978_45924979delinsTT	GRCh37
NC_000017.9:g.43279977_43279978delinsTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536300.2:c.817_818delinsAA MANE Select	ENSP00000438209.1:p.Ala273Lys
ENST00000342234.3:c.817_818delinsAA	ENSP00000340799.2:p.Ala273Lys
ENST00000536300.1:c.817_818delinsAA	ENSP00000438209.1:p.Ala273Lys
NM_001258248.1:c.817_818delinsAA	NP_001245177.1:p.Ala273Lys
NM_199262.2:c.817_818delinsAA	NP_954871.1:p.Ala273Lys
XM_006722115.2:c.817_818delinsAA	XP_006722178.1:p.Ala273Lys
XM_006722115.3:c.817_818delinsAA	XP_006722178.1:p.Ala273Lys
NM_001258248.2:c.817_818delinsAA MANE Select	NP_001245177.1:p.Ala273Lys
NM_199262.3:c.817_818delinsAA	NP_954871.1:p.Ala273Lys