Canonical Allele Identifier: CA633359348

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1459610281
• gnomAD v2: 19-46307259-AAAAAAGAAAAG-A
• gnomAD v3: 19-45804001-AAAAAAGAAAAG-A
• gnomAD v4: 19-45804001-AAAAAAGAAAAG-A
• MyVariant Identifiers: chr19:g.46307260_46307270del (hg19) ; chr19:g.45804002_45804012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804006_45804016del , CM000681.2:g.45804006_45804016del	GRCh38
NC_000019.9:g.46307264_46307274del , CM000681.1:g.46307264_46307274del	GRCh37
NC_000019.8:g.50999104_50999114del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+240_1653+250del MANE Select	ENSP00000221538.2:n.1653+240_1653+250del
ENST00000221538.7:c.1653+240_1653+250del	ENSP00000221538.2:n.1653+240_1653+250del
ENST00000597055.1:c.1653+240_1653+250del	ENSP00000472630.1:n.1653+240_1653+250del
ENST00000600188.5:c.861+240_861+250del	ENSP00000471559.1:n.861+240_861+250del
NM_030785.3:c.1653+240_1653+250del	NP_110412.1:n.1653+240_1653+250del
XM_011527351.1:c.1653+240_1653+250del	XP_011525653.1:n.1653+240_1653+250del
XM_011527351.2:c.1653+240_1653+250del	XP_011525653.1:n.1653+240_1653+250del
NM_030785.4:c.1653+240_1653+250del MANE Select	NP_110412.1:n.1653+240_1653+250del