Canonical Allele Identifier: CA584021098

Gene: GRHL2

Linked Data

• dbSNP Id: rs1263146336
• gnomAD v2: 8-102555738-ATTGT-A
• gnomAD v4: 8-101543510-ATTGT-A
• MyVariant Identifiers: chr8:g.102555739_102555742del (hg19) ; chr8:g.101543511_101543514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543515_101543518del , CM000670.2:g.101543515_101543518del	GRCh38
NC_000008.10:g.102555743_102555746del , CM000670.1:g.102555743_102555746del	GRCh37
NC_000008.9:g.102624919_102624922del	NCBI36
NG_011971.1:g.56076_56079del
NG_011971.2:g.56076_56079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.216+79_216+82del MANE Select	ENSP00000495564.1:n.216+79_216+82del
ENST00000251808.7:c.216+79_216+82del	ENSP00000251808.3:n.216+79_216+82del
ENST00000395927.1:c.168+79_168+82del	ENSP00000379260.1:n.168+79_168+82del
ENST00000472106.2:n.623_626del
NM_024915.3:c.216+79_216+82del	NP_079191.2:n.216+79_216+82del
XM_011517305.1:c.168+79_168+82del	XP_011515607.1:n.168+79_168+82del
XM_011517306.1:c.168+79_168+82del	XP_011515608.1:n.168+79_168+82del
XM_011517307.1:c.216+79_216+82del	XP_011515609.1:n.216+79_216+82del
NM_001330593.1:c.168+79_168+82del	NP_001317522.1:n.168+79_168+82del
XM_011517306.3:c.168+79_168+82del	XP_011515608.1:n.168+79_168+82del
XM_011517307.3:c.216+79_216+82del	XP_011515609.1:n.216+79_216+82del
NM_001330593.2:c.168+79_168+82del	NP_001317522.1:n.168+79_168+82del
NM_024915.4:c.216+79_216+82del MANE Select	NP_079191.2:n.216+79_216+82del