Canonical Allele Identifier: CA2638273149

Gene: GFAP

Linked Data

• gnomAD v4: 17-44907879-GCCTATGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907880_44907887del , CM000679.2:g.44907880_44907887del	GRCh38
NC_000017.10:g.42985248_42985255del , CM000679.1:g.42985248_42985255del	GRCh37
NC_000017.9:g.40340774_40340781del	NCBI36
NG_008401.1:g.12660_12667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+177_1377+184del	ENSP00000253408.5:n.1377+177_1377+184del
ENST00000253408.10:c.1377+177_1377+184del	ENSP00000253408.5:n.1377+177_1377+184del
ENST00000441312.2:n.110+177_110+184del
ENST00000585543.6:n.410+177_410+184del
ENST00000586125.2:c.369_376del	ENSP00000467397.2:n.[c.369_376del;Pro124CysfsTer?]
ENST00000588735.3:c.1257+177_1257+184del MANE Select	ENSP00000466598.2:n.1257+177_1257+184del
ENST00000589701.2:n.2164+177_2164+184del
ENST00000591880.2:c.533_540del
ENST00000592065.2:n.625+177_625+184del
ENST00000638304.1:c.176+177_176+184del
ENST00000638400.1:c.92+177_92+184del
ENST00000638488.1:n.721+177_721+184del
ENST00000638618.1:c.912+177_912+184del	ENSP00000492832.1:n.912+177_912+184del
ENST00000638921.1:n.361_368del
ENST00000639042.1:c.229+177_229+184del
ENST00000639243.1:c.13+177_13+184del
ENST00000639277.1:c.1257+177_1257+184del	ENSP00000492432.1:n.1257+177_1257+184del
ENST00000639369.1:c.107+177_107+184del
ENST00000640545.1:c.63+177_63+184del	ENSP00000491735.1:n.63+177_63+184del
ENST00000640859.1:c.71+177_71+184del
ENST00000253408.9:c.1257+177_1257+184del	ENSP00000253408.4:n.1257+177_1257+184del
ENST00000585543.5:n.410+177_410+184del
ENST00000588735.1:c.135+177_135+184del	ENSP00000466598.1:n.135+177_135+184del
ENST00000589701.1:n.159+177_159+184del
ENST00000591880.1:c.300_307del	ENSP00000467530.1:n.[c.300_307del;Pro101CysfsTer?]
ENST00000592065.1:n.51+177_51+184del
ENST00000592706.5:n.129+177_129+184del
NM_002055.4:c.1257+177_1257+184del	NP_002046.1:n.1257+177_1257+184del
NM_001363846.1:c.1377+177_1377+184del	NP_001350775.1:n.1377+177_1377+184del
XM_024450690.1:c.1581+177_1581+184del	XP_024306458.1:n.1581+177_1581+184del
XM_024450692.1:c.1461+177_1461+184del	XP_024306460.1:n.1461+177_1461+184del
NM_002055.5:c.1257+177_1257+184del MANE Select	NP_002046.1:n.1257+177_1257+184del
NM_001363846.2:c.1377+177_1377+184del	NP_001350775.1:n.1377+177_1377+184del