Canonical Allele Identifier: CA2638273177

Gene: GFAP

Linked Data

• gnomAD v4: 17-44907948-GCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907951_44907953del , CM000679.2:g.44907951_44907953del	GRCh38
NC_000017.10:g.42985319_42985321del , CM000679.1:g.42985319_42985321del	GRCh37
NC_000017.9:g.40340845_40340847del	NCBI36
NG_008401.1:g.12596_12598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+113_1377+115del	ENSP00000253408.5:n.1377+113_1377+115del
ENST00000253408.10:c.1377+113_1377+115del	ENSP00000253408.5:n.1377+113_1377+115del
ENST00000441312.2:n.110+113_110+115del
ENST00000585543.6:n.410+113_410+115del
ENST00000586125.2:c.305_307del	ENSP00000467397.2:p.Val102del
ENST00000588735.3:c.1257+113_1257+115del MANE Select	ENSP00000466598.2:n.1257+113_1257+115del
ENST00000589701.2:n.2164+113_2164+115del
ENST00000591880.2:c.469_471del
ENST00000592065.2:n.625+113_625+115del
ENST00000638304.1:c.176+113_176+115del
ENST00000638400.1:c.92+113_92+115del
ENST00000638488.1:n.721+113_721+115del
ENST00000638618.1:c.912+113_912+115del	ENSP00000492832.1:n.912+113_912+115del
ENST00000638921.1:n.297_299del
ENST00000639042.1:c.229+113_229+115del
ENST00000639243.1:c.13+113_13+115del
ENST00000639277.1:c.1257+113_1257+115del	ENSP00000492432.1:n.1257+113_1257+115del
ENST00000639369.1:c.107+113_107+115del
ENST00000640545.1:c.63+113_63+115del	ENSP00000491735.1:n.63+113_63+115del
ENST00000640859.1:c.71+113_71+115del
ENST00000253408.9:c.1257+113_1257+115del	ENSP00000253408.4:n.1257+113_1257+115del
ENST00000585543.5:n.410+113_410+115del
ENST00000588735.1:c.135+113_135+115del	ENSP00000466598.1:n.135+113_135+115del
ENST00000589701.1:n.159+113_159+115del
ENST00000591880.1:c.236_238del	ENSP00000467530.1:p.Val79del
ENST00000592065.1:n.51+113_51+115del
ENST00000592706.5:n.129+113_129+115del
NM_002055.4:c.1257+113_1257+115del	NP_002046.1:n.1257+113_1257+115del
NM_001363846.1:c.1377+113_1377+115del	NP_001350775.1:n.1377+113_1377+115del
XM_024450690.1:c.1581+113_1581+115del	XP_024306458.1:n.1581+113_1581+115del
XM_024450692.1:c.1461+113_1461+115del	XP_024306460.1:n.1461+113_1461+115del
NM_002055.5:c.1257+113_1257+115del MANE Select	NP_002046.1:n.1257+113_1257+115del
NM_001363846.2:c.1377+113_1377+115del	NP_001350775.1:n.1377+113_1377+115del