Canonical Allele Identifier: CA996342901

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45804005-AAG-A
• gnomAD v4: 19-45804005-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804007_45804008del , CM000681.2:g.45804007_45804008del	GRCh38
NC_000019.9:g.46307265_46307266del , CM000681.1:g.46307265_46307266del	GRCh37
NC_000019.8:g.50999105_50999106del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+245_1653+246del MANE Select	ENSP00000221538.2:n.1653+245_1653+246del
ENST00000221538.7:c.1653+245_1653+246del	ENSP00000221538.2:n.1653+245_1653+246del
ENST00000597055.1:c.1653+245_1653+246del	ENSP00000472630.1:n.1653+245_1653+246del
ENST00000600188.5:c.861+245_861+246del	ENSP00000471559.1:n.861+245_861+246del
NM_030785.3:c.1653+245_1653+246del	NP_110412.1:n.1653+245_1653+246del
XM_011527351.1:c.1653+245_1653+246del	XP_011525653.1:n.1653+245_1653+246del
XM_011527351.2:c.1653+245_1653+246del	XP_011525653.1:n.1653+245_1653+246del
NM_030785.4:c.1653+245_1653+246del MANE Select	NP_110412.1:n.1653+245_1653+246del