Canonical Allele Identifier: CA8608933

Gene: GFAP

Linked Data

• dbSNP Id: rs770716078
• ExAC: 17:42991028 GTC / G
• gnomAD v2: 17-42991028-GTC-G
• gnomAD v4: 17-44913660-GTC-G
• MyVariant Identifiers: chr17:g.42991029_42991030del (hg19) ; chr17:g.44913661_44913662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913664_44913665del , CM000679.2:g.44913664_44913665del	GRCh38
NC_000017.10:g.42991032_42991033del , CM000679.1:g.42991032_42991033del	GRCh37
NC_000017.9:g.40346558_40346559del	NCBI36
NG_008401.1:g.6885_6886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.618+66_618+67del	ENSP00000253408.5:n.618+66_618+67del
ENST00000435360.8:c.618+66_618+67del	ENSP00000403962.1:n.618+66_618+67del
ENST00000253408.10:c.618+66_618+67del	ENSP00000253408.5:n.618+66_618+67del
ENST00000435360.7:c.618+66_618+67del	ENSP00000403962.1:n.618+66_618+67del
ENST00000586127.6:n.1147+66_1147+67del
ENST00000586793.6:c.618+66_618+67del	ENSP00000468500.2:n.618+66_618+67del
ENST00000587997.6:n.35_36del
ENST00000588735.3:c.618+66_618+67del MANE Select	ENSP00000466598.2:n.618+66_618+67del
ENST00000591327.2:n.1772+66_1772+67del
ENST00000592320.6:c.618+66_618+67del	ENSP00000465320.1:n.618+66_618+67del
ENST00000638281.1:c.618+66_618+67del	ENSP00000491088.1:n.618+66_618+67del
ENST00000638618.1:c.273+66_273+67del	ENSP00000492832.1:n.273+66_273+67del
ENST00000639277.1:c.618+66_618+67del	ENSP00000492432.1:n.618+66_618+67del
ENST00000640552.1:n.632+66_632+67del
ENST00000253408.9:c.618+66_618+67del	ENSP00000253408.4:n.618+66_618+67del
ENST00000376990.8:c.*17+66_*17+67del	ENSP00000366189.4:n.*17+66_*17+67del
ENST00000435360.6:c.618+66_618+67del	ENSP00000403962.1:n.618+66_618+67del
ENST00000585728.5:c.*262+66_*262+67del	ENSP00000465208.1:n.*262+66_*262+67del
ENST00000586127.5:c.-44+66_-44+67del	ENSP00000464795.1:n.-44+66_-44+67del
ENST00000586793.5:c.618+66_618+67del	ENSP00000468500.1:n.618+66_618+67del
ENST00000587997.5:c.35_36del
ENST00000588316.1:c.523-232_523-231del	ENSP00000465629.1:n.523-232_523-231del
ENST00000588735.1:c.82+1743_82+1744del	ENSP00000466598.1:n.82+1743_82+1744del
ENST00000588957.5:c.-115+66_-115+67del	ENSP00000465565.1:n.-115+66_-115+67del
ENST00000590922.1:n.37_38del
ENST00000591327.1:n.571+66_571+67del
ENST00000592320.5:c.618+66_618+67del	ENSP00000465320.1:n.618+66_618+67del
NM_001131019.2:c.618+66_618+67del	NP_001124491.1:n.618+66_618+67del
NM_001242376.1:c.618+66_618+67del	NP_001229305.1:n.618+66_618+67del
NM_002055.4:c.618+66_618+67del	NP_002046.1:n.618+66_618+67del
NM_001363846.1:c.618+66_618+67del	NP_001350775.1:n.618+66_618+67del
XM_024450690.1:c.822+66_822+67del	XP_024306458.1:n.822+66_822+67del
XM_024450691.1:c.822+66_822+67del	XP_024306459.1:n.822+66_822+67del
XM_024450692.1:c.822+66_822+67del	XP_024306460.1:n.822+66_822+67del
XM_024450693.1:c.822+66_822+67del	XP_024306461.1:n.822+66_822+67del
NM_002055.5:c.618+66_618+67del MANE Select	NP_002046.1:n.618+66_618+67del
NM_001131019.3:c.618+66_618+67del	NP_001124491.1:n.618+66_618+67del
NM_001242376.2:c.618+66_618+67del	NP_001229305.1:n.618+66_618+67del
NM_001242376.3:c.618+66_618+67del	NP_001229305.1:n.618+66_618+67del
NM_001363846.2:c.618+66_618+67del	NP_001350775.1:n.618+66_618+67del