Canonical Allele Identifier: CA182436897

Gene: GRHL2

Linked Data

• dbSNP Id: rs919131091
• gnomAD v3: 8-101644363-GTCT-G
• gnomAD v4: 8-101644363-GTCT-G
• MyVariant Identifiers: chr8:g.102656592_102656594del (hg19) ; chr8:g.101644364_101644366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644371_101644373del , CM000670.2:g.101644371_101644373del	GRCh38
NC_000008.10:g.102656599_102656601del , CM000670.1:g.102656599_102656601del	GRCh37
NC_000008.9:g.102725775_102725777del	NCBI36
NG_011971.1:g.156932_156934del
NG_011971.2:g.156932_156934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1612+146_1612+148del MANE Select	ENSP00000495564.1:n.1612+146_1612+148del
ENST00000251808.7:c.1612+146_1612+148del	ENSP00000251808.3:n.1612+146_1612+148del
ENST00000395927.1:c.1564+146_1564+148del	ENSP00000379260.1:n.1564+146_1564+148del
ENST00000474338.1:n.254+146_254+148del
ENST00000517674.5:n.267+146_267+148del
NM_024915.3:c.1612+146_1612+148del	NP_079191.2:n.1612+146_1612+148del
XM_011517305.1:c.1564+146_1564+148del	XP_011515607.1:n.1564+146_1564+148del
XM_011517306.1:c.1564+146_1564+148del	XP_011515608.1:n.1564+146_1564+148del
XM_011517307.1:c.1612+146_1612+148del	XP_011515609.1:n.1612+146_1612+148del
NM_001330593.1:c.1564+146_1564+148del	NP_001317522.1:n.1564+146_1564+148del
XM_011517306.3:c.1564+146_1564+148del	XP_011515608.1:n.1564+146_1564+148del
XM_011517307.3:c.1612+146_1612+148del	XP_011515609.1:n.1612+146_1612+148del
NM_001330593.2:c.1564+146_1564+148del	NP_001317522.1:n.1564+146_1564+148del
NM_024915.4:c.1612+146_1612+148del MANE Select	NP_079191.2:n.1612+146_1612+148del