Canonical Allele Identifier: CA1064325803

Gene: SHROOM3

Linked Data

• dbSNP Id: rs1731492409
• gnomAD v3: 4-76476742-CTCTCCTTTCA-C
• gnomAD v4: 4-76476742-CTCTCCTTTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76476747_76476756del , CM000666.2:g.76476747_76476756del	GRCh38
NC_000004.11:g.77397900_77397909del , CM000666.1:g.77397900_77397909del	GRCh37
NC_000004.10:g.77616924_77616933del	NCBI36
NG_028077.1:g.46648_46657del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296043.7:c.168+40527_168+40536del MANE Select	ENSP00000296043.6:n.168+40527_168+40536del
ENST00000296043.6:c.168+40527_168+40536del	ENSP00000296043.6:n.168+40527_168+40536del
ENST00000466541.1:n.75+40527_75+40536del
ENST00000497440.5:n.109+40527_109+40536del
NM_020859.3:c.168+40527_168+40536del	NP_065910.3:n.168+40527_168+40536del
XM_005263162.3:c.168+40527_168+40536del	XP_005263219.1:n.168+40527_168+40536del
XM_011532158.1:c.168+40527_168+40536del	XP_011530460.1:n.168+40527_168+40536del
XM_011532159.1:c.168+40527_168+40536del	XP_011530461.1:n.168+40527_168+40536del
XM_011532158.3:c.168+40527_168+40536del	XP_011530460.1:n.168+40527_168+40536del
NM_020859.4:c.168+40527_168+40536del MANE Select	NP_065910.3:n.168+40527_168+40536del