Canonical Allele Identifier: CA2625128305

Gene: SIX1

Linked Data

• gnomAD v4: 14-60645515-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645515_60645516insAAA , CM000676.2:g.60645515_60645516insAAA	GRCh38
NC_000014.8:g.61112233_61112234insAAA , CM000676.1:g.61112233_61112234insAAA	GRCh37
NC_000014.7:g.60181986_60181987insAAA	NCBI36
NG_008231.1:g.8922_8923insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*767_*768insTTT MANE Select	ENSP00000494686.1:n.*767_*768insTTT
ENST00000247182.6:c.*767_*768insTTT	ENSP00000247182.5:n.*767_*768insTTT
ENST00000553535.2:n.1310_1311insTTT
ENST00000554986.2:c.*767_*768insTTT	ENSP00000452700.2:n.*767_*768insTTT
ENST00000555955.3:n.2259_2260insTTT
NM_005982.3:c.*767_*768insTTT	NP_005973.1:n.*767_*768insTTT
XM_017021602.2:c.*1041_*1042insTTT	XP_016877091.1:n.*1041_*1042insTTT
NM_005982.4:c.*767_*768insTTT MANE Select	NP_005973.1:n.*767_*768insTTT