Canonical Allele Identifier: CA2918329

Gene: SGCB

Linked Data

• dbSNP Id: rs768591985
• ExAC: 4:52894248 G / GTTTAAATAT
• gnomAD v2: 4-52894248-G-GTTTAAATAT
• gnomAD v3: 4-52028082-G-GTTTAAATAT
• gnomAD v4: 4-52028082-G-GTTTAAATAT
• MyVariant Identifiers: chr4:g.52894248_52894249insTTTAAATAT (hg19) ; chr4:g.52028082_52028083insTTTAAATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028082_52028083insTTTAAATAT , CM000666.2:g.52028082_52028083insTTTAAATAT	GRCh38
NC_000004.11:g.52894248_52894249insTTTAAATAT , CM000666.1:g.52894248_52894249insTTTAAATAT	GRCh37
NC_000004.10:g.52589005_52589006insTTTAAATAT	NCBI36
NG_008891.1:g.15237_15238insATATTTAAA , LRG_204:g.15237_15238insATATTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.638_639insATATTTAAA MANE Select	ENSP00000370839.6:p.Thr213_Ser214insTyrLeuAsn
ENST00000381431.9:c.638_639insATATTTAAA	ENSP00000370839.5:p.Thr213_Ser214insTyrLeuAsn
NM_000232.4:c.638_639insATATTTAAA , LRG_204t1:c.638_639insATATTTAAA	NP_000223.1:p.Thr213_Ser214insTyrLeuAsn
XM_006714049.2:c.341_342insATATTTAAA	XP_006714112.1:p.Thr114_Ser115insTyrLeuAsn
XM_011534403.1:c.428_429insATATTTAAA	XP_011532705.1:p.Thr143_Ser144insTyrLeuAsn
XM_011534404.1:c.341_342insATATTTAAA	XP_011532706.1:p.Thr114_Ser115insTyrLeuAsn
NM_000232.5:c.638_639insATATTTAAA MANE Select	NP_000223.1:p.Thr213_Ser214insTyrLeuAsn