Canonical Allele Identifier: CA2625128788

Gene: SIX1

Linked Data

• gnomAD v4: 14-60649201-GCCGGGGCGCACGGCCCAGGCGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649203_60649225del , CM000676.2:g.60649203_60649225del	GRCh38
NC_000014.8:g.61115921_61115943del , CM000676.1:g.61115921_61115943del	GRCh37
NC_000014.7:g.60185674_60185696del	NCBI36
NG_008231.1:g.5214_5236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-35_-13del MANE Select	ENSP00000494686.1:n.-35_-13del
ENST00000247182.6:c.-35_-13del	ENSP00000247182.5:n.-35_-13del
ENST00000553535.2:n.249-2647_249-2625del
ENST00000554986.2:c.42-2647_42-2625del	ENSP00000452700.2:n.42-2647_42-2625del
ENST00000555955.3:n.1198-2647_1198-2625del
NM_005982.3:c.-35_-13del	NP_005973.1:n.-35_-13del
XM_017021602.2:c.-35_-13del	XP_016877091.1:n.-35_-13del
NM_005982.4:c.-35_-13del MANE Select	NP_005973.1:n.-35_-13del