Canonical Allele Identifier: CA2637061590

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956420-AAGTTTGCGGGGTGTCCTGTCCAGCCCCTTGACGCCCCTCAACCGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956421_30956467del , CM000679.2:g.30956421_30956467del	GRCh38
NC_000017.10:g.29283439_29283485del , CM000679.1:g.29283439_29283485del	GRCh37
NC_000017.9:g.26307565_26307611del	NCBI36
NG_051975.1:g.39686_39732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1063_1109del MANE Select	ENSP00000329468.3:p.Ser355TyrfsTer15
ENST00000330889.7:c.1063_1109del	ENSP00000329468.3:p.Ser355TyrfsTer15
ENST00000470962.1:n.483_529del
ENST00000480980.1:n.497_543del
ENST00000580525.5:c.1081_1127del	ENSP00000464121.1:p.Ser361TyrfsTer15
ENST00000584828.5:c.402+30_402+76del
ENST00000585130.5:c.*662_*708del	ENSP00000464120.1:n.*662_*708del
NM_018404.2:c.1063_1109del	NP_060874.1:p.Ser355TyrfsTer15
XM_005258008.2:c.1081_1127del	XP_005258065.1:p.Ser361TyrfsTer15
XM_005258011.2:c.1018_1064del	XP_005258068.1:p.Ser340TyrfsTer15
XM_006721973.2:c.1051+30_1051+76del	XP_006722036.1:n.1051+30_1051+76del
XM_011524993.1:c.1078_1124del	XP_011523295.1:p.Ser360TyrfsTer15
XM_011524994.1:c.1060_1106del	XP_011523296.1:p.Ser354TyrfsTer15
NM_001346712.1:c.1081_1127del	NP_001333641.1:p.Ser361TyrfsTer15
NM_001346714.1:c.1060_1106del	NP_001333643.1:p.Ser354TyrfsTer15
NM_001346716.1:c.1033+30_1033+76del	NP_001333645.1:n.1033+30_1033+76del
NR_144488.1:n.1262_1308del
XM_024450831.1:c.1063_1109del	XP_024306599.1:p.Ser355Ter
XM_024450832.1:c.1078_1124del	XP_024306600.1:p.Ser360TyrfsTer15
XM_024450833.1:c.1018_1064del	XP_024306601.1:p.Ser340TyrfsTer15
XM_024450834.1:c.1051+30_1051+76del	XP_024306602.1:n.1051+30_1051+76del
XM_024450835.1:c.697_743del	XP_024306603.1:p.Ser233TyrfsTer15
NM_018404.3:c.1063_1109del MANE Select	NP_060874.1:p.Ser355TyrfsTer15
NM_001346712.2:c.1081_1127del	NP_001333641.1:p.Ser361TyrfsTer15
NM_001346714.2:c.1060_1106del	NP_001333643.1:p.Ser354TyrfsTer15
NM_001346716.2:c.1033+30_1033+76del	NP_001333645.1:n.1033+30_1033+76del
NR_144488.2:n.1053_1099del