Canonical Allele Identifier: CA2338614915

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804210_45804211delinsCT , CM000681.2:g.45804210_45804211delinsCT	GRCh38
NC_000019.9:g.46307468_46307469delinsCT , CM000681.1:g.46307468_46307469delinsCT	GRCh37
NC_000019.8:g.50999308_50999309delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+41_1653+42delinsAG MANE Select	ENSP00000221538.2:n.1653+41_1653+42delinsAG
ENST00000221538.7:c.1653+41_1653+42delinsAG	ENSP00000221538.2:n.1653+41_1653+42delinsAG
ENST00000597055.1:c.1653+41_1653+42delinsAG	ENSP00000472630.1:n.1653+41_1653+42delinsAG
ENST00000600188.5:c.861+41_861+42delinsAG	ENSP00000471559.1:n.861+41_861+42delinsAG
NM_030785.3:c.1653+41_1653+42delinsAG	NP_110412.1:n.1653+41_1653+42delinsAG
XM_011527351.1:c.1653+41_1653+42delinsAG	XP_011525653.1:n.1653+41_1653+42delinsAG
XM_011527351.2:c.1653+41_1653+42delinsAG	XP_011525653.1:n.1653+41_1653+42delinsAG
NM_030785.4:c.1653+41_1653+42delinsAG MANE Select	NP_110412.1:n.1653+41_1653+42delinsAG