Canonical Allele Identifier: CA2786082794

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489500_130489501insCCCAAACACACCCA , CM000671.2:g.130489500_130489501insCCCAAACACACCCA	GRCh38
NC_000009.11:g.133364887_133364888insCCCAAACACACCCA , CM000671.1:g.133364887_133364888insCCCAAACACACCCA	GRCh37
NC_000009.10:g.132354708_132354709insCCCAAACACACCCA	NCBI36
NG_011542.1:g.49794_49795insCCCAAACACACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+36_970+37insCCCAAACACACCCA MANE Select	ENSP00000253004.6:n.970+36_970+37insCCCAAACACACCCA
ENST00000352480.9:c.970+36_970+37insCCCAAACACACCCA	ENSP00000253004.6:n.970+36_970+37insCCCAAACACACCCA
ENST00000372386.6:n.241+36_241+37insCCCAAACACACCCA
ENST00000372393.7:c.970+36_970+37insCCCAAACACACCCA	ENSP00000361469.2:n.970+36_970+37insCCCAAACACACCCA
ENST00000372394.5:c.970+36_970+37insCCCAAACACACCCA	ENSP00000361471.1:n.970+36_970+37insCCCAAACACACCCA
NM_000050.4:c.970+36_970+37insCCCAAACACACCCA	NP_000041.2:n.970+36_970+37insCCCAAACACACCCA
NM_054012.3:c.970+36_970+37insCCCAAACACACCCA	NP_446464.1:n.970+36_970+37insCCCAAACACACCCA
XM_005272200.2:c.970+36_970+37insCCCAAACACACCCA	XP_005272257.1:n.970+36_970+37insCCCAAACACACCCA
XM_011518705.1:c.1084+36_1084+37insCCCAAACACACCCA	XP_011517007.1:n.1084+36_1084+37insCCCAAACACACCCA
XM_005272200.3:c.970+36_970+37insCCCAAACACACCCA	XP_005272257.1:n.970+36_970+37insCCCAAACACACCCA
XM_011518705.2:c.1084+36_1084+37insCCCAAACACACCCA	XP_011517007.1:n.1084+36_1084+37insCCCAAACACACCCA
XM_017014729.1:c.1066+36_1066+37insCCCAAACACACCCA	XP_016870218.1:n.1066+36_1066+37insCCCAAACACACCCA
NM_054012.4:c.970+36_970+37insCCCAAACACACCCA MANE Select	NP_446464.1:n.970+36_970+37insCCCAAACACACCCA