Canonical Allele Identifier: CA999815626

Gene: RPS6KA1

Linked Data

• dbSNP Id: rs2075931817
• gnomAD v3: 1-26539640-CTTGT-C
• gnomAD v4: 1-26539640-CTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26539643_26539646del , CM000663.2:g.26539643_26539646del	GRCh38
NC_000001.10:g.26866134_26866137del , CM000663.1:g.26866134_26866137del	GRCh37
NC_000001.9:g.26738721_26738724del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374168.7:c.108+2674_108+2677del MANE Select	ENSP00000363283.2:n.108+2674_108+2677del
ENST00000374166.8:c.108+2674_108+2677del	ENSP00000363281.4:n.108+2674_108+2677del
ENST00000374168.6:c.108+2674_108+2677del	ENSP00000363283.2:n.108+2674_108+2677del
ENST00000524436.5:n.254+2674_254+2677del
ENST00000525525.5:c.*95+2674_*95+2677del	ENSP00000434616.1:n.*95+2674_*95+2677del
ENST00000526040.6:c.108+2674_108+2677del	ENSP00000436990.1:n.108+2674_108+2677del
ENST00000526792.5:c.-169+2674_-169+2677del	ENSP00000431651.1:n.-169+2674_-169+2677del
ENST00000529454.5:c.-52+2674_-52+2677del	ENSP00000433039.1:n.-52+2674_-52+2677del
NM_002953.3:c.108+2674_108+2677del	NP_002944.2:n.108+2674_108+2677del
XM_005245967.2:c.-169+2674_-169+2677del	XP_005246024.1:n.-169+2674_-169+2677del
XM_011541898.1:c.-169+2674_-169+2677del	XP_011540200.1:n.-169+2674_-169+2677del
XM_024448871.1:c.-169+2674_-169+2677del	XP_024304639.1:n.-169+2674_-169+2677del
NM_002953.4:c.108+2674_108+2677del MANE Select	NP_002944.2:n.108+2674_108+2677del