Canonical Allele Identifier: CA996342940

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45804028-G-GAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA
• gnomAD v4: 19-45804028-G-GAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA , CM000681.2:g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.46307294_46307295insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA , CM000681.1:g.46307294_46307295insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.50999134_50999135insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000221538.2:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTT...
ENST00000221538.7:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000221538.2:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTT...
ENST00000597055.1:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000472630.1:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTT...
ENST00000600188.5:c.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000471559.1:n.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTT...
NM_030785.3:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	NP_110412.1:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTT...
XM_011527351.1:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTT...
XM_011527351.2:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTT...
NM_030785.4:c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_110412.1:n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTT...