Canonical Allele Identifier: CA521765664

Gene: RPS6KA1

Linked Data

• dbSNP Id: rs1329919762
• gnomAD v2: 1-26865920-GAGTC-G
• gnomAD v3: 1-26539429-GAGTC-G
• gnomAD v4: 1-26539429-GAGTC-G
• MyVariant Identifiers: chr1:g.26865921_26865924del (hg19) ; chr1:g.26539430_26539433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26539432_26539435del , CM000663.2:g.26539432_26539435del	GRCh38
NC_000001.10:g.26865923_26865926del , CM000663.1:g.26865923_26865926del	GRCh37
NC_000001.9:g.26738510_26738513del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374168.7:c.108+2463_108+2466del MANE Select	ENSP00000363283.2:n.108+2463_108+2466del
ENST00000374166.8:c.108+2463_108+2466del	ENSP00000363281.4:n.108+2463_108+2466del
ENST00000374168.6:c.108+2463_108+2466del	ENSP00000363283.2:n.108+2463_108+2466del
ENST00000524436.5:n.254+2463_254+2466del
ENST00000525525.5:c.*95+2463_*95+2466del	ENSP00000434616.1:n.*95+2463_*95+2466del
ENST00000526040.6:c.108+2463_108+2466del	ENSP00000436990.1:n.108+2463_108+2466del
ENST00000526792.5:c.-169+2463_-169+2466del	ENSP00000431651.1:n.-169+2463_-169+2466de...
ENST00000529454.5:c.-52+2463_-52+2466del	ENSP00000433039.1:n.-52+2463_-52+2466del
NM_002953.3:c.108+2463_108+2466del	NP_002944.2:n.108+2463_108+2466del
XM_005245967.2:c.-169+2463_-169+2466del	XP_005246024.1:n.-169+2463_-169+2466del
XM_011541898.1:c.-169+2463_-169+2466del	XP_011540200.1:n.-169+2463_-169+2466del
XM_024448871.1:c.-169+2463_-169+2466del	XP_024304639.1:n.-169+2463_-169+2466del
NM_002953.4:c.108+2463_108+2466del MANE Select	NP_002944.2:n.108+2463_108+2466del