Canonical Allele Identifier: CA1330546389

Gene: PAX3

Linked Data

• dbSNP Id: rs1695321393

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222296800_222296801insCTTTCCCT , CM000664.2:g.222296800_222296801insCTTTCCCT	GRCh38
NC_000002.11:g.223161519_223161520insCTTTCCCT , CM000664.1:g.223161519_223161520insCTTTCCCT	GRCh37
NC_000002.10:g.222869763_222869764insCTTTCCCT	NCBI36
NG_011632.1:g.7181_7182insAGGGAAAG
NG_021186.1:g.3654_3655insCTTTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.321+177_321+178insAGGGAAAG	ENSP00000258387.5:n.321+177_321+178insAGGGAAAG
ENST00000336840.11:c.321+177_321+178insAGGGAAAG	ENSP00000338767.5:n.321+177_321+178insAGGGAAAG
ENST00000344493.9:c.321+177_321+178insAGGGAAAG	ENSP00000342092.4:n.321+177_321+178insAGGGAAAG
ENST00000350526.9:c.321+177_321+178insAGGGAAAG	ENSP00000343052.4:n.321+177_321+178insAGGGAAAG
ENST00000392070.7:c.321+177_321+178insAGGGAAAG MANE Select	ENSP00000375922.3:n.321+177_321+178insAGGGAAAG
ENST00000647467.1:n.702+177_702+178insAGGGAAAG
ENST00000258387.5:c.321+177_321+178insAGGGAAAG	ENSP00000258387.5:n.321+177_321+178insAGGGAAAG
ENST00000336840.10:c.321+177_321+178insAGGGAAAG	ENSP00000338767.5:n.321+177_321+178insAGGGAAAG
ENST00000344493.8:c.321+177_321+178insAGGGAAAG	ENSP00000342092.4:n.321+177_321+178insAGGGAAAG
ENST00000350526.8:c.321+177_321+178insAGGGAAAG	ENSP00000343052.4:n.321+177_321+178insAGGGAAAG
ENST00000392069.6:c.321+177_321+178insAGGGAAAG	ENSP00000375921.2:n.321+177_321+178insAGGGAAAG
ENST00000392070.6:c.321+177_321+178insAGGGAAAG	ENSP00000375922.2:n.321+177_321+178insAGGGAAAG
ENST00000409551.7:c.321+177_321+178insAGGGAAAG	ENSP00000386750.3:n.321+177_321+178insAGGGAAAG
ENST00000409828.7:c.321+177_321+178insAGGGAAAG	ENSP00000386817.3:n.321+177_321+178insAGGGAAAG
NM_000438.5:c.321+177_321+178insAGGGAAAG	NP_000429.2:n.321+177_321+178insAGGGAAAG
NM_001127366.2:c.321+177_321+178insAGGGAAAG	NP_001120838.1:n.321+177_321+178insAGGGAAAG
NM_013942.4:c.321+177_321+178insAGGGAAAG	NP_039230.1:n.321+177_321+178insAGGGAAAG
NM_181457.3:c.321+177_321+178insAGGGAAAG	NP_852122.1:n.321+177_321+178insAGGGAAAG
NM_181458.3:c.321+177_321+178insAGGGAAAG	NP_852123.1:n.321+177_321+178insAGGGAAAG
NM_181459.3:c.321+177_321+178insAGGGAAAG	NP_852124.1:n.321+177_321+178insAGGGAAAG
NM_181460.3:c.321+177_321+178insAGGGAAAG	NP_852125.1:n.321+177_321+178insAGGGAAAG
NM_181461.3:c.321+177_321+178insAGGGAAAG	NP_852126.1:n.321+177_321+178insAGGGAAAG
XM_011511278.1:c.465+177_465+178insAGGGAAAG	XP_011509580.1:n.465+177_465+178insAGGGAAAG
XM_011511280.1:c.465+177_465+178insAGGGAAAG	XP_011509582.1:n.465+177_465+178insAGGGAAAG
XM_011511281.1:c.465+177_465+178insAGGGAAAG	XP_011509583.1:n.465+177_465+178insAGGGAAAG
NM_000438.6:c.321+177_321+178insAGGGAAAG	NP_000429.2:n.321+177_321+178insAGGGAAAG
NM_001127366.3:c.321+177_321+178insAGGGAAAG	NP_001120838.1:n.321+177_321+178insAGGGAAAG
NM_013942.5:c.321+177_321+178insAGGGAAAG	NP_039230.1:n.321+177_321+178insAGGGAAAG
NM_181457.4:c.321+177_321+178insAGGGAAAG	NP_852122.1:n.321+177_321+178insAGGGAAAG
NM_181458.4:c.321+177_321+178insAGGGAAAG MANE Select	NP_852123.1:n.321+177_321+178insAGGGAAAG
NM_181459.4:c.321+177_321+178insAGGGAAAG	NP_852124.1:n.321+177_321+178insAGGGAAAG
NM_181460.4:c.321+177_321+178insAGGGAAAG	NP_852125.1:n.321+177_321+178insAGGGAAAG
NM_181461.4:c.321+177_321+178insAGGGAAAG	NP_852126.1:n.321+177_321+178insAGGGAAAG