Canonical Allele Identifier: CA8485046

Gene: ADAP2

Linked Data

• dbSNP Id: rs779185334
• ExAC: 17:29283272 AGGGCCAGGTTTTTCTT / A
• gnomAD v2: 17-29283272-AGGGCCAGGTTTTTCTT-A
• MyVariant Identifiers: chr17:g.29283273_29283288del (hg19) ; chr17:g.30956255_30956270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956258_30956273del , CM000679.2:g.30956258_30956273del	GRCh38
NC_000017.10:g.29283276_29283291del , CM000679.1:g.29283276_29283291del	GRCh37
NC_000017.9:g.26307402_26307417del	NCBI36
NG_051975.1:g.39523_39538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.900_915del MANE Select	ENSP00000329468.3:p.Gln301ThrfsTer?
ENST00000330889.7:c.900_915del	ENSP00000329468.3:p.Gln301ThrfsTer?
ENST00000470962.1:n.320_335del
ENST00000480980.1:n.334_349del
ENST00000580525.5:c.918_933del	ENSP00000464121.1:p.Gln307ThrfsTer?
ENST00000581285.5:c.816_831del	ENSP00000464155.1:p.Gln273ThrfsTer?
ENST00000584828.5:c.269_284del
ENST00000584989.1:c.192_207del	ENSP00000462634.1:p.Gln65ThrfsTer?
ENST00000585130.5:c.*499_*514del	ENSP00000464120.1:n.*499_*514del
NM_018404.2:c.900_915del	NP_060874.1:p.Gln301ThrfsTer?
XM_005258008.2:c.918_933del	XP_005258065.1:p.Gln307ThrfsTer?
XM_005258011.2:c.855_870del	XP_005258068.1:p.Gln286ThrfsTer?
XM_006721973.2:c.918_933del	XP_006722036.1:p.Gln307ThrfsTer?
XM_011524993.1:c.915_930del	XP_011523295.1:p.Gln306ThrfsTer?
XM_011524994.1:c.897_912del	XP_011523296.1:p.Gln300ThrfsTer?
NM_001346712.1:c.918_933del	NP_001333641.1:p.Gln307ThrfsTer?
NM_001346714.1:c.897_912del	NP_001333643.1:p.Gln300ThrfsTer?
NM_001346716.1:c.900_915del	NP_001333645.1:p.Gln301ThrfsTer?
NR_144488.1:n.1099_1114del
XM_024450831.1:c.900_915del	XP_024306599.1:p.Gln301ThrfsTer?
XM_024450832.1:c.915_930del	XP_024306600.1:p.Gln306ThrfsTer?
XM_024450833.1:c.855_870del	XP_024306601.1:p.Gln286ThrfsTer?
XM_024450834.1:c.918_933del	XP_024306602.1:p.Gln307ThrfsTer?
XM_024450835.1:c.534_549del	XP_024306603.1:p.Gln179ThrfsTer?
NM_018404.3:c.900_915del MANE Select	NP_060874.1:p.Gln301ThrfsTer?
NM_001346712.2:c.918_933del	NP_001333641.1:p.Gln307ThrfsTer?
NM_001346714.2:c.897_912del	NP_001333643.1:p.Gln300ThrfsTer?
NM_001346716.2:c.900_915del	NP_001333645.1:p.Gln301ThrfsTer?
NR_144488.2:n.890_905del