Canonical Allele Identifier: CA2338614948

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970509647

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804274_45804275del , CM000681.2:g.45804274_45804275del	GRCh38
NC_000019.9:g.46307532_46307533del , CM000681.1:g.46307532_46307533del	GRCh37
NC_000019.8:g.50999372_50999373del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1636_1637del MANE Select	ENSP00000221538.2:p.Gln546AlafsTer?
ENST00000221538.7:c.1636_1637del	ENSP00000221538.2:p.Gln546AlafsTer?
ENST00000597055.1:c.1636_1637del	ENSP00000472630.1:p.Gln546AlafsTer?
ENST00000600188.5:c.844_845del	ENSP00000471559.1:p.Gln282AlafsTer?
NM_030785.3:c.1636_1637del	NP_110412.1:p.Gln546AlafsTer?
XM_011527351.1:c.1636_1637del	XP_011525653.1:p.Gln546AlafsTer?
XM_011527351.2:c.1636_1637del	XP_011525653.1:p.Gln546AlafsTer?
NM_030785.4:c.1636_1637del MANE Select	NP_110412.1:p.Gln546AlafsTer?