Canonical Allele Identifier: CA2579483579

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480472_130480473del , CM000671.2:g.130480472_130480473del	GRCh38
NC_000009.11:g.133355859_133355860del , CM000671.1:g.133355859_133355860del	GRCh37
NC_000009.10:g.132345680_132345681del	NCBI36
NG_011542.1:g.40766_40767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+23_838+24del MANE Select	ENSP00000253004.6:n.838+23_838+24del
ENST00000352480.9:c.838+23_838+24del	ENSP00000253004.6:n.838+23_838+24del
ENST00000372386.6:n.109+23_109+24del
ENST00000372393.7:c.838+23_838+24del	ENSP00000361469.2:n.838+23_838+24del
ENST00000372394.5:c.838+23_838+24del	ENSP00000361471.1:n.838+23_838+24del
ENST00000470849.4:n.563+23_563+24del
ENST00000492400.5:n.347+23_347+24del
ENST00000493984.6:n.615+23_615+24del
NM_000050.4:c.838+23_838+24del	NP_000041.2:n.838+23_838+24del
NM_054012.3:c.838+23_838+24del	NP_446464.1:n.838+23_838+24del
XM_005272200.2:c.838+23_838+24del	XP_005272257.1:n.838+23_838+24del
XM_011518705.1:c.952+23_952+24del	XP_011517007.1:n.952+23_952+24del
XM_005272200.3:c.838+23_838+24del	XP_005272257.1:n.838+23_838+24del
XM_011518705.2:c.952+23_952+24del	XP_011517007.1:n.952+23_952+24del
XM_017014729.1:c.934+23_934+24del	XP_016870218.1:n.934+23_934+24del
NM_054012.4:c.838+23_838+24del MANE Select	NP_446464.1:n.838+23_838+24del