Canonical Allele Identifier: CA973757050

Gene: GFER

Linked Data

• gnomAD v3: 16-1985759-AGTT-A
• gnomAD v4: 16-1985759-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985760_1985762del , CM000678.2:g.1985760_1985762del	GRCh38
NC_000016.9:g.2035761_2035763del , CM000678.1:g.2035761_2035763del	GRCh37
NC_000016.8:g.1975762_1975764del	NCBI36
NG_016288.1:g.6612_6614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.231-106_231-104del	ENSP00000455885.1:n.231-106_231-104del
ENST00000248114.7:c.456-106_456-104del MANE Select	ENSP00000248114.6:n.456-106_456-104del
ENST00000248114.6:c.456-106_456-104del	ENSP00000248114.6:n.456-106_456-104del
ENST00000565658.1:n.613-106_613-104del
ENST00000567719.1:c.231-106_231-104del	ENSP00000455885.1:n.231-106_231-104del
ENST00000569451.1:c.259-106_259-104del	ENSP00000456432.1:n.259-106_259-104del
NM_005262.2:c.456-106_456-104del	NP_005253.3:n.456-106_456-104del
NM_005262.3:c.456-106_456-104del MANE Select	NP_005253.3:n.456-106_456-104del