Canonical Allele Identifier: CA633359350
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1243355398
gnomAD v2: 19-46307260-AAAAAG-A
gnomAD v3: 19-45804002-AAAAAG-A
gnomAD v4: 19-45804002-AAAAAG-A
MyVariant Identifiers: chr19:g.46307266_46307270del (hg19) chr19:g.46307261_46307265del (hg19) chr19:g.45804008_45804012del (hg38) chr19:g.45804003_45804007del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804022_45804026del , CM000681.2:g.45804022_45804026del GRCh38
NC_000019.9:g.46307280_46307284del , CM000681.1:g.46307280_46307284del GRCh37
NC_000019.8:g.50999120_50999124del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+245_1653+249del MANE Select ENSP00000221538.2:n.1653+245_1653+249del
ENST00000221538.7:c.1653+245_1653+249del ENSP00000221538.2:n.1653+245_1653+249del
ENST00000597055.1:c.1653+245_1653+249del ENSP00000472630.1:n.1653+245_1653+249del
ENST00000600188.5:c.861+245_861+249del ENSP00000471559.1:n.861+245_861+249del
NM_030785.3:c.1653+245_1653+249del NP_110412.1:n.1653+245_1653+249del
XM_011527351.1:c.1653+245_1653+249del XP_011525653.1:n.1653+245_1653+249del
XM_011527351.2:c.1653+245_1653+249del XP_011525653.1:n.1653+245_1653+249del
NM_030785.4:c.1653+245_1653+249del MANE Select NP_110412.1:n.1653+245_1653+249del
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