Canonical Allele Identifier: CA2605686464

Gene: SGCD

Linked Data

• dbSNP Id: rs2127716341
• gnomAD v3: 5-156344439-TCTC-T
• gnomAD v4: 5-156344439-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344440_156344442del , CM000667.2:g.156344440_156344442del	GRCh38
NC_000005.9:g.155771450_155771452del , CM000667.1:g.155771450_155771452del	GRCh37
NC_000005.8:g.155704028_155704030del	NCBI36
NG_008693.2:g.479097_479099del , LRG_205:g.479097_479099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.4-49_4-47del MANE Select	ENSP00000338343.4:n.4-49_4-47del
ENST00000337851.8:c.4-49_4-47del	ENSP00000338343.4:n.4-49_4-47del
ENST00000435422.7:c.1-49_1-47del	ENSP00000403003.2:n.1-49_1-47del
ENST00000517913.5:c.4-49_4-47del	ENSP00000429378.1:n.4-49_4-47del
ENST00000524347.2:c.4-49_4-47del	ENSP00000430794.1:n.4-49_4-47del
NM_000337.5:c.4-49_4-47del , LRG_205t1:c.4-49_4-47del	NP_000328.2:n.4-49_4-47del
NM_001128209.1:c.1-49_1-47del	NP_001121681.1:n.1-49_1-47del
NM_172244.2:c.4-49_4-47del	NP_758447.1:n.4-49_4-47del
XM_005265966.3:c.4-49_4-47del	XP_005266023.1:n.4-49_4-47del
XM_005265967.1:c.4-49_4-47del	XP_005266024.1:n.4-49_4-47del
XM_006714911.2:c.4-49_4-47del	XP_006714974.1:n.4-49_4-47del
XM_011534621.1:c.1-49_1-47del	XP_011532923.1:n.1-49_1-47del
XR_941123.1:n.254+3011_254+3013del
XM_005265966.5:c.4-49_4-47del	XP_005266023.1:n.4-49_4-47del
XM_005265967.2:c.4-49_4-47del	XP_005266024.1:n.4-49_4-47del
XM_011534621.2:c.1-49_1-47del	XP_011532923.1:n.1-49_1-47del
XM_017009723.2:c.4-49_4-47del	XP_016865212.1:n.4-49_4-47del
XM_017009724.1:c.4-49_4-47del	XP_016865213.1:n.4-49_4-47del
NM_001128209.2:c.1-49_1-47del	NP_001121681.1:n.1-49_1-47del
NM_172244.3:c.4-49_4-47del	NP_758447.1:n.4-49_4-47del
NM_000337.6:c.4-49_4-47del MANE Select	NP_000328.2:n.4-49_4-47del