Canonical Allele Identifier: CA507828547
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1398410579
gnomAD v2: 19-46307250-TC-T
gnomAD v3: 19-45803992-TC-T
gnomAD v4: 19-45803992-TC-T
MyVariant Identifiers: chr19:g.46307251del (hg19) chr19:g.45803993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45803993del , CM000681.2:g.45803993del GRCh38
NC_000019.9:g.46307251del , CM000681.1:g.46307251del GRCh37
NC_000019.8:g.50999091del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+259del MANE Select ENSP00000221538.2:n.1653+259del
ENST00000221538.7:c.1653+259del ENSP00000221538.2:n.1653+259del
ENST00000597055.1:c.1653+259del ENSP00000472630.1:n.1653+259del
ENST00000600188.5:c.861+259del ENSP00000471559.1:n.861+259del
NM_030785.3:c.1653+259del NP_110412.1:n.1653+259del
XM_011527351.1:c.1653+259del XP_011525653.1:n.1653+259del
XM_011527351.2:c.1653+259del XP_011525653.1:n.1653+259del
NM_030785.4:c.1653+259del MANE Select NP_110412.1:n.1653+259del
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