Canonical Allele Identifier: CA614369737

Gene: SIX1

Linked Data

• dbSNP Id: rs1566722510
• gnomAD v2: 14-61115920-C-CCGGGGCG
• gnomAD v4: 14-60649202-C-CCGGGGCG
• MyVariant Identifiers: chr14:g.61115920_61115921insCGGGGCG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649204_60649210dup , CM000676.2:g.60649204_60649210dup	GRCh38
NC_000014.8:g.61115922_61115928dup , CM000676.1:g.61115922_61115928dup	GRCh37
NC_000014.7:g.60185675_60185681dup	NCBI36
NG_008231.1:g.5229_5235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-20_-14dup MANE Select	ENSP00000494686.1:n.-20_-14dup
ENST00000247182.6:c.-20_-14dup	ENSP00000247182.5:n.-20_-14dup
ENST00000553535.2:n.249-2632_249-2626dup
ENST00000554986.2:c.42-2632_42-2626dup	ENSP00000452700.2:n.42-2632_42-2626dup
ENST00000555955.3:n.1198-2632_1198-2626dup
NM_005982.3:c.-20_-14dup	NP_005973.1:n.-20_-14dup
XM_017021602.2:c.-20_-14dup	XP_016877091.1:n.-20_-14dup
NM_005982.4:c.-20_-14dup MANE Select	NP_005973.1:n.-20_-14dup