Canonical Allele Identifier: CA2659874464

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663228-CCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663233_85663236del , CM000664.2:g.85663233_85663236del	GRCh38
NC_000002.11:g.85890356_85890359del , CM000664.1:g.85890356_85890359del	GRCh37
NC_000002.10:g.85743867_85743870del	NCBI36
NG_016967.1:g.10510_10513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.1002+114_1002+117del	ENSP00000386346.2:n.1002+114_1002+117del
ENST00000519937.7:c.1002+114_1002+117del MANE Select	ENSP00000428719.2:n.1002+114_1002+117del
ENST00000393822.7:c.1002+114_1002+117del	ENSP00000377409.4:n.1002+114_1002+117del
ENST00000409383.5:c.1038+114_1038+117del	ENSP00000386346.1:n.1038+114_1038+117del
ENST00000428225.5:c.979+114_979+117del
ENST00000491167.1:n.202+114_202+117del
ENST00000494165.1:c.133+114_133+117del
ENST00000519937.6:c.1002+114_1002+117del	ENSP00000428719.2:n.1002+114_1002+117del
NM_000542.3:c.1038+114_1038+117del	NP_000533.3:n.1038+114_1038+117del
NM_198843.2:c.1038+114_1038+117del	NP_942140.2:n.1038+114_1038+117del
XM_005264487.2:c.1038+114_1038+117del	XP_005264544.1:n.1038+114_1038+117del
XM_005264488.2:c.990+114_990+117del	XP_005264545.2:n.990+114_990+117del
XM_005264490.3:c.1002+114_1002+117del	XP_005264547.2:n.1002+114_1002+117del
XM_005264488.4:c.990+114_990+117del	XP_005264545.2:n.990+114_990+117del
XM_005264490.4:c.1002+114_1002+117del	XP_005264547.2:n.1002+114_1002+117del
NM_000542.4:c.1002+114_1002+117del	NP_000533.4:n.1002+114_1002+117del
NM_001367281.1:c.1002+114_1002+117del	NP_001354210.1:n.1002+114_1002+117del
NM_198843.3:c.1002+114_1002+117del	NP_942140.3:n.1002+114_1002+117del
NM_000542.5:c.1002+114_1002+117del MANE Select	NP_000533.4:n.1002+114_1002+117del