Canonical Allele Identifier: CA772329390

Gene: GFAP

Linked Data

• dbSNP Id: rs1292863863
• MyVariant Identifiers: chr17:g.42985490_42985492del (hg19) ; chr17:g.44908122_44908124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908122_44908124del , CM000679.2:g.44908122_44908124del	GRCh38
NC_000017.10:g.42985490_42985492del , CM000679.1:g.42985490_42985492del	GRCh37
NC_000017.9:g.40341016_40341018del	NCBI36
NG_008401.1:g.12423_12425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1317_1319del	ENSP00000253408.5:p.Ser440del
ENST00000253408.10:c.1317_1319del	ENSP00000253408.5:p.Ser440del
ENST00000441312.2:n.50_52del
ENST00000585543.6:n.350_352del
ENST00000586125.2:c.132_134del	ENSP00000467397.2:p.Ser45del
ENST00000588735.3:c.1197_1199del MANE Select	ENSP00000466598.2:p.Ser400del
ENST00000589701.2:n.2104_2106del
ENST00000591880.2:c.296_298del
ENST00000592065.2:n.565_567del
ENST00000638304.1:c.116_118del
ENST00000638400.1:c.32_34del
ENST00000638488.1:n.661_663del
ENST00000638618.1:c.852_854del	ENSP00000492832.1:p.Ser285del
ENST00000638921.1:n.124_126del
ENST00000639042.1:c.169_171del
ENST00000639277.1:c.1197_1199del	ENSP00000492432.1:p.Ser400del
ENST00000639369.1:c.47_49del
ENST00000640545.1:c.3_5del	ENSP00000491735.1:p.Ser2del
ENST00000640859.1:c.11_13del
ENST00000253408.9:c.1197_1199del	ENSP00000253408.4:p.Ser400del
ENST00000585543.5:n.350_352del
ENST00000586125.1:c.168_170del	ENSP00000467397.1:p.Ser57del
ENST00000588735.1:c.83-8_83-6del	ENSP00000466598.1:n.83-8_83-6del
ENST00000589701.1:n.99_101del
ENST00000591880.1:c.63_65del	ENSP00000467530.1:p.Ser22del
ENST00000592706.5:n.69_71del
NM_002055.4:c.1197_1199del	NP_002046.1:p.Ser400del
NM_001363846.1:c.1317_1319del	NP_001350775.1:p.Ser440del
XM_024450690.1:c.1521_1523del	XP_024306458.1:p.Ser508del
XM_024450692.1:c.1401_1403del	XP_024306460.1:p.Ser468del
NM_002055.5:c.1197_1199del MANE Select	NP_002046.1:p.Ser400del
NM_001363846.2:c.1317_1319del	NP_001350775.1:p.Ser440del