Canonical Allele Identifier: CA128923627

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 1266901
• ClinVar RCV Id: RCV001670570 ; RCV003487670
• dbSNP Id: rs3036740
• gnomAD v2: 5-147486818-CGT-C
• gnomAD v3: 5-148107255-CGT-C
• gnomAD v4: 5-148107255-CGT-C
• MyVariant Identifiers: chr5:g.147486819_147486820del (hg19) ; chr5:g.148107256_148107257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107257_148107258del , CM000667.2:g.148107257_148107258del	GRCh38
NC_000005.9:g.147486820_147486821del , CM000667.1:g.147486820_147486821del	GRCh37
NC_000005.8:g.147467013_147467014del	NCBI36
NG_009633.1:g.48286_48287del , LRG_110:g.48286_48287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+93_1216+94del
ENST00000256084.8:c.1607+93_1607+94del MANE Select	ENSP00000256084.7:n.1607+93_1607+94del
ENST00000256084.7:c.1607+93_1607+94del	ENSP00000256084.7:n.1607+93_1607+94del
ENST00000359874.7:c.1607+93_1607+94del	ENSP00000352936.3:n.1607+93_1607+94del
ENST00000398454.5:c.1607+93_1607+94del	ENSP00000381472.1:n.1607+93_1607+94del
ENST00000507988.5:n.1771+93_1771+94del
ENST00000508733.5:c.1550+93_1550+94del	ENSP00000421519.1:n.1550+93_1550+94del
NM_001127698.1:c.1607+93_1607+94del	NP_001121170.1:n.1607+93_1607+94del
NM_001127699.1:c.1607+93_1607+94del	NP_001121171.1:n.1607+93_1607+94del
NM_006846.3:c.1607+93_1607+94del , LRG_110t1:c.1607+93_1607+94del	NP_006837.2:n.1607+93_1607+94del
XM_011537550.1:c.1550+93_1550+94del	XP_011535852.1:n.1550+93_1550+94del
XM_011537551.1:c.1523+93_1523+94del	XP_011535853.1:n.1523+93_1523+94del
XM_011537551.2:c.1523+93_1523+94del	XP_011535853.1:n.1523+93_1523+94del
NM_001127698.2:c.1607+93_1607+94del	NP_001121170.1:n.1607+93_1607+94del
NM_001127699.2:c.1607+93_1607+94del	NP_001121171.1:n.1607+93_1607+94del
NM_006846.4:c.1607+93_1607+94del MANE Select	NP_006837.2:n.1607+93_1607+94del