Canonical Allele Identifier: CA2638262088

Gene: GFAP

Linked Data

• gnomAD v4: 17-44908196-A-AGAGGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908197_44908198insAGGATGG , CM000679.2:g.44908197_44908198insAGGATGG	GRCh38
NC_000017.10:g.42985565_42985566insAGGATGG , CM000679.1:g.42985565_42985566insAGGATGG	GRCh37
NC_000017.9:g.40341091_40341092insAGGATGG	NCBI36
NG_008401.1:g.12350_12351insCATCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-48_1292-47insCATCCTC	ENSP00000253408.5:n.1292-48_1292-47insCATCCTC
ENST00000253408.10:c.1292-48_1292-47insCATCCTC	ENSP00000253408.5:n.1292-48_1292-47insCATCCTC
ENST00000441312.2:n.25-48_25-47insCATCCTC
ENST00000585543.6:n.325-48_325-47insCATCCTC
ENST00000586125.2:c.107-48_107-47insCATCCTC	ENSP00000467397.2:n.107-48_107-47insCATCCTC
ENST00000588735.3:c.1172-48_1172-47insCATCCTC MANE Select	ENSP00000466598.2:n.1172-48_1172-47insCATCCTC
ENST00000589701.2:n.2031_2032insCATCCTC
ENST00000591880.2:c.271-48_271-47insCATCCTC
ENST00000592065.2:n.492_493insCATCCTC
ENST00000638304.1:c.91-48_91-47insCATCCTC
ENST00000638400.1:c.7-48_7-47insCATCCTC
ENST00000638488.1:n.636-48_636-47insCATCCTC
ENST00000638618.1:c.827-48_827-47insCATCCTC	ENSP00000492832.1:n.827-48_827-47insCATCCTC
ENST00000638921.1:n.51_52insCATCCTC
ENST00000639042.1:c.144-48_144-47insCATCCTC
ENST00000639277.1:c.1172-48_1172-47insCATCCTC	ENSP00000492432.1:n.1172-48_1172-47insCATCCTC
ENST00000639369.1:c.22-48_22-47insCATCCTC
ENST00000253408.9:c.1172-48_1172-47insCATCCTC	ENSP00000253408.4:n.1172-48_1172-47insCATCCTC
ENST00000585543.5:n.325-48_325-47insCATCCTC
ENST00000586125.1:c.143-48_143-47insCATCCTC	ENSP00000467397.1:n.143-48_143-47insCATCCTC
ENST00000588640.5:n.552-48_552-47insCATCCTC
ENST00000588735.1:c.83-81_83-80insCATCCTC	ENSP00000466598.1:n.83-81_83-80insCATCCTC
ENST00000589701.1:n.26_27insCATCCTC
ENST00000591880.1:c.38-48_38-47insCATCCTC	ENSP00000467530.1:n.38-48_38-47insCATCCTC
ENST00000592706.5:n.44-48_44-47insCATCCTC
NM_002055.4:c.1172-48_1172-47insCATCCTC	NP_002046.1:n.1172-48_1172-47insCATCCTC
NM_001363846.1:c.1292-48_1292-47insCATCCTC	NP_001350775.1:n.1292-48_1292-47insCATCCTC
XM_024450690.1:c.1496-48_1496-47insCATCCTC	XP_024306458.1:n.1496-48_1496-47insCATCCTC
XM_024450692.1:c.1376-48_1376-47insCATCCTC	XP_024306460.1:n.1376-48_1376-47insCATCCTC
NM_002055.5:c.1172-48_1172-47insCATCCTC MANE Select	NP_002046.1:n.1172-48_1172-47insCATCCTC
NM_001363846.2:c.1292-48_1292-47insCATCCTC	NP_001350775.1:n.1292-48_1292-47insCATCCTC