Canonical Allele Identifier: CA583891810

Gene: GRHL2

Linked Data

• dbSNP Id: rs1365375476
• gnomAD v2: 8-102656141-AC-A
• gnomAD v3: 8-101643913-AC-A
• gnomAD v4: 8-101643913-AC-A
• MyVariant Identifiers: chr8:g.102656142del (hg19) ; chr8:g.101643914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101643914del , CM000670.2:g.101643914del	GRCh38
NC_000008.10:g.102656142del , CM000670.1:g.102656142del	GRCh37
NC_000008.9:g.102725318del	NCBI36
NG_011971.1:g.156475del
NG_011971.2:g.156475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1518-217del MANE Select	ENSP00000495564.1:n.1518-217del
ENST00000251808.7:c.1518-217del	ENSP00000251808.3:n.1518-217del
ENST00000395927.1:c.1470-217del	ENSP00000379260.1:n.1470-217del
ENST00000474338.1:n.160-217del
ENST00000517674.5:n.173-217del
NM_024915.3:c.1518-217del	NP_079191.2:n.1518-217del
XM_011517305.1:c.1470-217del	XP_011515607.1:n.1470-217del
XM_011517306.1:c.1470-217del	XP_011515608.1:n.1470-217del
XM_011517307.1:c.1518-217del	XP_011515609.1:n.1518-217del
NM_001330593.1:c.1470-217del	NP_001317522.1:n.1470-217del
XM_011517306.3:c.1470-217del	XP_011515608.1:n.1470-217del
XM_011517307.3:c.1518-217del	XP_011515609.1:n.1518-217del
NM_001330593.2:c.1470-217del	NP_001317522.1:n.1470-217del
NM_024915.4:c.1518-217del MANE Select	NP_079191.2:n.1518-217del