Canonical Allele Identifier: CA626225369

Gene: GFAP

Linked Data

• dbSNP Id: rs1318699536
• gnomAD v2: 17-42985640-CAG-C
• gnomAD v4: 17-44908272-CAG-C
• MyVariant Identifiers: chr17:g.42985641_42985642del (hg19) ; chr17:g.44908273_44908274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908279_44908280del , CM000679.2:g.44908279_44908280del	GRCh38
NC_000017.10:g.42985647_42985648del , CM000679.1:g.42985647_42985648del	GRCh37
NC_000017.9:g.40341173_40341174del	NCBI36
NG_008401.1:g.12273_12274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-125_1292-124del	ENSP00000253408.5:n.1292-125_1292-124del
ENST00000253408.10:c.1292-125_1292-124del	ENSP00000253408.5:n.1292-125_1292-124del
ENST00000441312.2:n.25-125_25-124del
ENST00000585543.6:n.325-125_325-124del
ENST00000586125.2:c.107-125_107-124del	ENSP00000467397.2:n.107-125_107-124del
ENST00000588735.3:c.1172-125_1172-124del MANE Select	ENSP00000466598.2:n.1172-125_1172-124del
ENST00000589701.2:n.1954_1955del
ENST00000591880.2:c.271-125_271-124del
ENST00000592065.2:n.415_416del
ENST00000638304.1:c.91-125_91-124del
ENST00000638400.1:c.7-125_7-124del
ENST00000638488.1:n.636-125_636-124del
ENST00000638618.1:c.827-125_827-124del	ENSP00000492832.1:n.827-125_827-124del
ENST00000639042.1:c.144-125_144-124del
ENST00000639277.1:c.1172-125_1172-124del	ENSP00000492432.1:n.1172-125_1172-124del
ENST00000639369.1:c.22-125_22-124del
ENST00000640552.1:n.3526_3527del
ENST00000253408.9:c.1172-125_1172-124del	ENSP00000253408.4:n.1172-125_1172-124del
ENST00000585543.5:n.325-125_325-124del
ENST00000586125.1:c.143-125_143-124del	ENSP00000467397.1:n.143-125_143-124del
ENST00000588640.5:n.552-125_552-124del
ENST00000588735.1:c.83-158_83-157del	ENSP00000466598.1:n.83-158_83-157del
ENST00000591880.1:c.38-125_38-124del	ENSP00000467530.1:n.38-125_38-124del
ENST00000592706.5:n.44-125_44-124del
NM_002055.4:c.1172-125_1172-124del	NP_002046.1:n.1172-125_1172-124del
NM_001363846.1:c.1292-125_1292-124del	NP_001350775.1:n.1292-125_1292-124del
XM_024450690.1:c.1496-125_1496-124del	XP_024306458.1:n.1496-125_1496-124del
XM_024450692.1:c.1376-125_1376-124del	XP_024306460.1:n.1376-125_1376-124del
NM_002055.5:c.1172-125_1172-124del MANE Select	NP_002046.1:n.1172-125_1172-124del
NM_001242376.2:c.*2195_*2196del	NP_001229305.1:n.*2195_*2196del
NM_001363846.2:c.1292-125_1292-124del	NP_001350775.1:n.1292-125_1292-124del