Canonical Allele Identifier: CA2499224679

Gene: SP6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47847612_47847613delinsAT , CM000679.2:g.47847612_47847613delinsAT	GRCh38
NC_000017.10:g.45924978_45924979delinsAT , CM000679.1:g.45924978_45924979delinsAT	GRCh37
NC_000017.9:g.43279977_43279978delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001258248.2:c.817_818delinsAT MANE Select	NP_001245177.1:p.Ala273Met
ENST00000536300.2:c.817_818delinsAT MANE Select	ENSP00000438209.1:p.Ala273Met
NM_001258248.1:c.817_818delinsAT	NP_001245177.1:p.Ala273Met
NM_199262.2:c.817_818delinsAT	NP_954871.1:p.Ala273Met
NM_199262.3:c.817_818delinsAT	NP_954871.1:p.Ala273Met
ENST00000342234.3:c.817_818delinsAT	ENSP00000340799.2:p.Ala273Met
ENST00000536300.1:c.817_818delinsAT	ENSP00000438209.1:p.Ala273Met
XM_006722115.2:c.817_818delinsAT	XP_006722178.1:p.Ala273Met
XM_006722115.3:c.817_818delinsAT	XP_006722178.1:p.Ala273Met